MATCAP1 (microtubule associated tyrosine carboxypeptidase 1) - Rat Genome Database

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Gene: MATCAP1 (microtubule associated tyrosine carboxypeptidase 1) Homo sapiens
Analyze
Symbol: MATCAP1
Name: microtubule associated tyrosine carboxypeptidase 1
RGD ID: 2302259
HGNC Page HGNC:34408
Description: Enables tubulin-tyrosine carboxypeptidase. Predicted to be involved in brain development. Is active in microtubule; INTERACTS WITH acrylamide; benzo[a]pyrene; benzo[e]pyrene.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: hypothetical protein LOC653319; KIAA0895 like; KIAA0895-like; KIAA0895L; microtubule-associated tyrosine carboxypeptidase; microtubule-associated tyrosine carboxypeptidase 1; TMCP1; tubulin metallocarboxypeptidase 1; uncharacterized protein KIAA0895-like
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: KIAA0895LP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381667,175,599 - 67,183,963 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1667,175,599 - 67,184,040 (-)EnsemblGRCh38hg38GRCh38
GRCh371667,209,502 - 67,217,866 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361665,767,006 - 65,775,384 (-)NCBINCBI36Build 36hg18NCBI36
Celera1651,717,749 - 51,726,115 (-)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1653,082,693 - 53,091,059 (-)NCBIHuRef
CHM1_11668,616,832 - 68,625,210 (-)NCBICHM1_1
T2T-CHM13v2.01672,969,893 - 72,978,247 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
brain development  (IEA,ISS)
proteolysis  (IEA)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:28611215   PMID:32296183   PMID:32694731   PMID:35256949   PMID:35482892   PMID:37703372  


Genomics

Comparative Map Data
MATCAP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381667,175,599 - 67,183,963 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1667,175,599 - 67,184,040 (-)EnsemblGRCh38hg38GRCh38
GRCh371667,209,502 - 67,217,866 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361665,767,006 - 65,775,384 (-)NCBINCBI36Build 36hg18NCBI36
Celera1651,717,749 - 51,726,115 (-)NCBICelera
Cytogenetic Map16q22.1NCBI
HuRef1653,082,693 - 53,091,059 (-)NCBIHuRef
CHM1_11668,616,832 - 68,625,210 (-)NCBICHM1_1
T2T-CHM13v2.01672,969,893 - 72,978,247 (-)NCBIT2T-CHM13v2.0
Matcap1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398106,007,041 - 106,016,160 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8106,007,041 - 106,016,496 (-)EnsemblGRCm39 Ensembl
GRCm388105,280,409 - 105,289,528 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8105,280,409 - 105,289,864 (-)EnsemblGRCm38mm10GRCm38
MGSCv378107,804,309 - 107,813,428 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368108,169,538 - 108,178,179 (-)NCBIMGSCv36mm8
Celera8109,503,558 - 109,512,676 (-)NCBICelera
Cytogenetic Map8D3NCBI
cM Map853.04NCBI
Matcap1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81950,067,978 - 50,076,715 (-)NCBIGRCr8
mRatBN7.21933,158,053 - 33,166,784 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1933,158,056 - 33,166,445 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1939,974,694 - 39,982,388 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01940,628,013 - 40,635,707 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01942,916,918 - 42,924,614 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01937,236,484 - 37,245,217 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1937,237,523 - 37,245,217 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01948,103,018 - 48,110,939 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41935,096,867 - 35,104,561 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1932,587,866 - 32,595,560 (-)NCBICelera
Cytogenetic Map19q11NCBI
Matcap1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554849,434,523 - 9,442,711 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554849,434,959 - 9,442,711 (+)NCBIChiLan1.0ChiLan1.0
MATCAP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21876,705,373 - 76,714,073 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11682,618,029 - 82,625,720 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01647,521,391 - 47,529,602 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11666,909,819 - 66,918,166 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1666,909,814 - 66,914,863 (-)Ensemblpanpan1.1panPan2
MATCAP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1582,182,737 - 82,190,590 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha582,172,184 - 82,180,035 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0582,617,865 - 82,625,723 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl582,617,898 - 82,625,721 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1582,443,962 - 82,451,813 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0582,129,510 - 82,137,354 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0582,768,781 - 82,776,628 (+)NCBIUU_Cfam_GSD_1.0
Matcap1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934941,932,608 - 41,939,563 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647517,649,551 - 17,657,292 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647517,648,565 - 17,656,445 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MATCAP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl627,818,262 - 27,824,777 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1627,818,257 - 27,826,896 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2625,111,290 - 25,116,545 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MATCAP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1560,272,471 - 60,280,277 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl560,276,145 - 60,279,940 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604723,024,608 - 23,033,290 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Matcap1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474619,134,377 - 19,141,462 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474619,133,871 - 19,141,587 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MATCAP1
9 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 copy number gain See cases [RCV000052421] Chr16:65313395..90081985 [GRCh38]
Chr16:65347298..90148393 [GRCh37]
Chr16:63904799..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1 copy number loss See cases [RCV000053333] Chr16:62179331..67770414 [GRCh38]
Chr16:62213235..67804317 [GRCh37]
Chr16:60770736..66361818 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1 copy number loss See cases [RCV000053335] Chr16:64311275..68062011 [GRCh38]
Chr16:64345179..68095914 [GRCh37]
Chr16:62902680..66653415 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1 copy number loss See cases [RCV000053336] Chr16:66694180..67865445 [GRCh38]
Chr16:66728083..67899348 [GRCh37]
Chr16:65285584..66456849 [NCBI36]
Chr16:16q22.1		 pathogenic
NM_178516.3(EXOC3L1):c.284G>A (p.Gly95Glu) single nucleotide variant Malignant melanoma [RCV000063077] Chr16:67188864 [GRCh38]
Chr16:67222767 [GRCh37]
Chr16:65780268 [NCBI36]
Chr16:16q22.1		 not provided
NM_178516.3(EXOC3L1):c.561C>T (p.Val187=) single nucleotide variant Malignant melanoma [RCV000063076] Chr16:67187704 [GRCh38]
Chr16:67221607 [GRCh37]
Chr16:65779108 [NCBI36]
Chr16:16q22.1		 not provided
NM_001040715.2(MATCAP1):c.310C>T (p.Arg104Trp) single nucleotide variant Inborn genetic diseases [RCV003188380] Chr16:67180301 [GRCh38]
Chr16:67214204 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1 copy number loss See cases [RCV000134709] Chr16:66245888..67473023 [GRCh38]
Chr16:66279791..67506926 [GRCh37]
Chr16:64837292..66064427 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3 copy number gain See cases [RCV000137368] Chr16:66893204..67357178 [GRCh38]
Chr16:66927107..67391081 [GRCh37]
Chr16:65484608..65948582 [NCBI36]
Chr16:16q22.1		 likely pathogenic|uncertain significance
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 copy number gain See cases [RCV000139426] Chr16:65511483..90096995 [GRCh38]
Chr16:65545386..90163403 [GRCh37]
Chr16:64102887..88690904 [NCBI36]
Chr16:16q21-24.3		 pathogenic
GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3 copy number gain See cases [RCV000142764] Chr16:66921669..67312444 [GRCh38]
Chr16:66955572..67346347 [GRCh37]
Chr16:65513073..65903848 [NCBI36]
Chr16:16q22.1		 uncertain significance
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 copy number gain See cases [RCV000143742] Chr16:65957829..83611443 [GRCh38]
Chr16:65991732..83645048 [GRCh37]
Chr16:64549233..82202549 [NCBI36]
Chr16:16q21-23.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3 copy number gain See cases [RCV000510388] Chr16:66537021..67369281 [GRCh37]
Chr16:16q21-22.1		 uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001040715.2(MATCAP1):c.343C>T (p.Pro115Ser) single nucleotide variant Inborn genetic diseases [RCV003296416] Chr16:67180268 [GRCh38]
Chr16:67214171 [GRCh37]
Chr16:16q22.1		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q22.1(chr16:67180171-67234134)x1 copy number loss not provided [RCV000739191] Chr16:67180171..67234134 [GRCh37]
Chr16:16q22.1		 benign
GRCh37/hg19 16q22.1(chr16:67181999-67233266)x3 copy number gain not provided [RCV000739192] Chr16:67181999..67233266 [GRCh37]
Chr16:16q22.1		 benign
GRCh37/hg19 16q22.1(chr16:67132790-68166320) copy number loss not provided [RCV000767617] Chr16:67132790..68166320 [GRCh37]
Chr16:16q22.1		 pathogenic
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
NM_001040715.2(MATCAP1):c.226C>T (p.His76Tyr) single nucleotide variant Inborn genetic diseases [RCV003244632] Chr16:67180385 [GRCh38]
Chr16:67214288 [GRCh37]
Chr16:16q22.1		 uncertain significance
NM_001040715.2(MATCAP1):c.1280G>A (p.Arg427Gln) single nucleotide variant Inborn genetic diseases [RCV003286244] Chr16:67176947 [GRCh38]
Chr16:67210850 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 copy number loss not provided [RCV001006797] Chr16:65669673..70180183 [GRCh37]
Chr16:16q21-22.1		 pathogenic
NM_001040715.2(MATCAP1):c.1066G>A (p.Asp356Asn) single nucleotide variant Inborn genetic diseases [RCV003270255] Chr16:67178286 [GRCh38]
Chr16:67212189 [GRCh37]
Chr16:16q22.1		 uncertain significance
NC_000016.9:g.(?_66545871)_(72146396_?)dup duplication Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]|Immunodeficiency [RCV001900385]|not provided [RCV001900386] Chr16:66545871..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NC_000016.9:g.(?_65821800)_(72146396_?)del deletion Dyskeratosis congenita, autosomal dominant 6 [RCV003122496] Chr16:65821800..72146396 [GRCh37]
Chr16:16q21-22.2		 uncertain significance
NM_001040715.2(MATCAP1):c.887C>T (p.Pro296Leu) single nucleotide variant Inborn genetic diseases [RCV003210754] Chr16:67178465 [GRCh38]
Chr16:67212368 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q21-22.1(chr16:66110708-67240652)x3 copy number gain not provided [RCV003485115] Chr16:66110708..67240652 [GRCh37]
Chr16:16q21-22.1		 uncertain significance
NM_001040715.2(MATCAP1):c.1283C>T (p.Pro428Leu) single nucleotide variant Inborn genetic diseases [RCV003351995] Chr16:67176944 [GRCh38]
Chr16:67210847 [GRCh37]
Chr16:16q22.1		 uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2		 pathogenic
NM_001040715.2(MATCAP1):c.398C>G (p.Ala133Gly) single nucleotide variant Inborn genetic diseases [RCV003357129] Chr16:67180213 [GRCh38]
Chr16:67214116 [GRCh37]
Chr16:16q22.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6612
Count of miRNA genes:1041
Interacting mature miRNAs:1322
Transcripts:ENST00000290881, ENST00000561621, ENST00000561679, ENST00000562514, ENST00000563831, ENST00000563902, ENST00000563918, ENST00000564423, ENST00000564835, ENST00000568165, ENST00000568563, ENST00000569349, ENST00000570009
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
NOL3_7932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,209,061 - 67,209,763UniSTSGRCh37
Build 361665,766,562 - 65,767,264RGDNCBI36
Celera1651,717,305 - 51,718,007RGD
HuRef1653,082,249 - 53,082,951UniSTS
WI-20202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371810,727,809 - 10,727,933UniSTSGRCh37
GRCh371667,209,527 - 67,209,801UniSTSGRCh37
Build 361665,767,028 - 65,767,302RGDNCBI36
Celera1810,609,686 - 10,609,810UniSTS
Celera1651,717,771 - 51,718,045RGD
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.22UniSTS
HuRef1653,082,715 - 53,082,989UniSTS
HuRef1810,681,852 - 10,681,976UniSTS
GeneMap99-GB4 RH Map16403.52UniSTS
Whitehead-RH Map16299.5UniSTS
NCBI RH Map16508.6UniSTS
RH47869  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,208,819 - 67,209,040UniSTSGRCh37
Build 361665,766,320 - 65,766,541RGDNCBI36
Celera1651,717,063 - 51,717,284RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,082,007 - 53,082,228UniSTS
GeneMap99-GB4 RH Map16400.36UniSTS
NCBI RH Map16508.6UniSTS
D16S3308  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,209,565 - 67,209,666UniSTSGRCh37
Build 361665,767,066 - 65,767,167RGDNCBI36
Celera1651,717,809 - 51,717,910RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,082,753 - 53,082,854UniSTS
TNG Radiation Hybrid Map1628869.0UniSTS
Stanford-G3 RH Map162519.0UniSTS
GeneMap99-G3 RH Map162963.0UniSTS
RH41857  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371667,209,007 - 67,209,083UniSTSGRCh37
Build 361665,766,508 - 65,766,584RGDNCBI36
Celera1651,717,251 - 51,717,327RGD
Cytogenetic Map16q22.1UniSTS
HuRef1653,082,195 - 53,082,271UniSTS
GeneMap99-GB4 RH Map16401.72UniSTS
NCBI RH Map16508.6UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2301 1642 1360 286 932 134 3269 1085 3430 270 1324 1444 164 1188 1820 3
Low 137 1328 360 333 996 326 1087 1111 304 149 132 168 10 1 16 968 1 2
Below cutoff 19 6 5 22 5 2 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001040715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC040160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC074143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC128539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX460002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000290881   ⟹   ENSP00000290881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,175,604 - 67,184,040 (-)Ensembl
RefSeq Acc Id: ENST00000561621   ⟹   ENSP00000457099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,175,604 - 67,183,952 (-)Ensembl
RefSeq Acc Id: ENST00000561679
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,175,604 - 67,179,552 (-)Ensembl
RefSeq Acc Id: ENST00000562514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,175,602 - 67,176,455 (-)Ensembl
RefSeq Acc Id: ENST00000563831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,176,771 - 67,183,586 (-)Ensembl
RefSeq Acc Id: ENST00000563902   ⟹   ENSP00000456838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,175,599 - 67,183,963 (-)Ensembl
RefSeq Acc Id: ENST00000563918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,176,650 - 67,179,328 (-)Ensembl
RefSeq Acc Id: ENST00000564423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,179,430 - 67,183,962 (-)Ensembl
RefSeq Acc Id: ENST00000564835
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,179,118 - 67,179,961 (-)Ensembl
RefSeq Acc Id: ENST00000568165
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,179,481 - 67,180,089 (-)Ensembl
RefSeq Acc Id: ENST00000568563   ⟹   ENSP00000459322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,175,604 - 67,180,062 (-)Ensembl
RefSeq Acc Id: ENST00000570009
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1667,178,445 - 67,180,355 (-)Ensembl
RefSeq Acc Id: NM_001040715   ⟹   NP_001035805
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,175,599 - 67,183,963 (-)NCBI
GRCh371667,209,505 - 67,217,883 (-)RGD
Build 361665,767,006 - 65,775,384 (-)NCBI Archive
Celera1651,717,749 - 51,726,115 (-)RGD
HuRef1653,082,693 - 53,091,059 (-)RGD
CHM1_11668,616,832 - 68,625,210 (-)NCBI
T2T-CHM13v2.01672,969,893 - 72,978,247 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369680   ⟹   NP_001356609
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,175,599 - 67,183,963 (-)NCBI
T2T-CHM13v2.01672,969,893 - 72,978,247 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369681   ⟹   NP_001356610
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,175,599 - 67,183,963 (-)NCBI
T2T-CHM13v2.01672,969,893 - 72,978,247 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369682   ⟹   NP_001356611
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,175,599 - 67,183,963 (-)NCBI
T2T-CHM13v2.01672,969,893 - 72,978,247 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369684   ⟹   NP_001356613
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,175,599 - 67,183,963 (-)NCBI
T2T-CHM13v2.01672,969,893 - 72,978,247 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369685   ⟹   NP_001356614
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,175,599 - 67,183,963 (-)NCBI
T2T-CHM13v2.01672,969,893 - 72,978,247 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369686   ⟹   NP_001356615
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,175,599 - 67,183,963 (-)NCBI
T2T-CHM13v2.01672,969,893 - 72,978,247 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001369687   ⟹   NP_001356616
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,175,599 - 67,183,963 (-)NCBI
T2T-CHM13v2.01672,969,893 - 72,978,247 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001035805   ⟸   NM_001040715
- Peptide Label: isoform 1
- UniProtKB: Q8NAQ5 (UniProtKB/Swiss-Prot),   Q8N3H9 (UniProtKB/Swiss-Prot),   A2VCS8 (UniProtKB/Swiss-Prot),   Q96IE5 (UniProtKB/Swiss-Prot),   Q68EN5 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001356615   ⟸   NM_001369686
- Peptide Label: isoform 1
- UniProtKB: Q8NAQ5 (UniProtKB/Swiss-Prot),   Q8N3H9 (UniProtKB/Swiss-Prot),   Q68EN5 (UniProtKB/Swiss-Prot),   A2VCS8 (UniProtKB/Swiss-Prot),   Q96IE5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001356614   ⟸   NM_001369685
- Peptide Label: isoform 1
- UniProtKB: Q8NAQ5 (UniProtKB/Swiss-Prot),   Q8N3H9 (UniProtKB/Swiss-Prot),   Q68EN5 (UniProtKB/Swiss-Prot),   A2VCS8 (UniProtKB/Swiss-Prot),   Q96IE5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001356613   ⟸   NM_001369684
- Peptide Label: isoform 1
- UniProtKB: Q8NAQ5 (UniProtKB/Swiss-Prot),   Q8N3H9 (UniProtKB/Swiss-Prot),   Q68EN5 (UniProtKB/Swiss-Prot),   A2VCS8 (UniProtKB/Swiss-Prot),   Q96IE5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001356609   ⟸   NM_001369680
- Peptide Label: isoform 1
- UniProtKB: Q8NAQ5 (UniProtKB/Swiss-Prot),   Q8N3H9 (UniProtKB/Swiss-Prot),   Q68EN5 (UniProtKB/Swiss-Prot),   A2VCS8 (UniProtKB/Swiss-Prot),   Q96IE5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001356610   ⟸   NM_001369681
- Peptide Label: isoform 1
- UniProtKB: Q8NAQ5 (UniProtKB/Swiss-Prot),   Q8N3H9 (UniProtKB/Swiss-Prot),   Q68EN5 (UniProtKB/Swiss-Prot),   A2VCS8 (UniProtKB/Swiss-Prot),   Q96IE5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001356616   ⟸   NM_001369687
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001356611   ⟸   NM_001369682
- Peptide Label: isoform 1
- UniProtKB: Q8NAQ5 (UniProtKB/Swiss-Prot),   Q8N3H9 (UniProtKB/Swiss-Prot),   Q68EN5 (UniProtKB/Swiss-Prot),   A2VCS8 (UniProtKB/Swiss-Prot),   Q96IE5 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: ENSP00000457099   ⟸   ENST00000561621
RefSeq Acc Id: ENSP00000456838   ⟸   ENST00000563902
RefSeq Acc Id: ENSP00000290881   ⟸   ENST00000290881
RefSeq Acc Id: ENSP00000459322   ⟸   ENST00000568563

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q68EN5-F1-model_v2 AlphaFold Q68EN5 1-471 view protein structure

Promoters
RGD ID:6793146
Promoter ID:HG_KWN:24017
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002ERT.1,   UC002ERU.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361665,774,906 - 65,775,542 (-)MPROMDB
RGD ID:7232507
Promoter ID:EPDNEW_H21999
Type:initiation region
Name:KIAA0895L_2
Description:KIAA0895 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22000  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,183,528 - 67,183,588EPDNEW
RGD ID:7232509
Promoter ID:EPDNEW_H22000
Type:initiation region
Name:KIAA0895L_1
Description:KIAA0895 like
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21999  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381667,183,963 - 67,184,023EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:34408 AgrOrtholog
COSMIC MATCAP1 COSMIC
Ensembl Genes ENSG00000196123 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000290881 ENTREZGENE
  ENST00000290881.11 UniProtKB/Swiss-Prot
  ENST00000561621 ENTREZGENE
  ENST00000561621.5 UniProtKB/Swiss-Prot
  ENST00000563902 ENTREZGENE
  ENST00000563902.2 UniProtKB/Swiss-Prot
  ENST00000568563.5 UniProtKB/TrEMBL
GTEx ENSG00000196123 GTEx
HGNC ID HGNC:34408 ENTREZGENE
Human Proteome Map MATCAP1 Human Proteome Map
InterPro DUF1704 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:653319 UniProtKB/Swiss-Prot
NCBI Gene 653319 ENTREZGENE
OMIM 619978 OMIM
PANTHER KIAA0895 LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR31817 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DUF1704 UniProtKB/Swiss-Prot
PharmGKB PA164721818 PharmGKB
SMART DUF1704 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A2VCS8 ENTREZGENE
  I3L230_HUMAN UniProtKB/TrEMBL
  K895L_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8N3H9 ENTREZGENE
  Q8NAQ5 ENTREZGENE
  Q96IE5 ENTREZGENE
UniProt Secondary A2VCS8 UniProtKB/Swiss-Prot
  Q8N3H9 UniProtKB/Swiss-Prot
  Q8NAQ5 UniProtKB/Swiss-Prot
  Q96IE5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2022-06-20 MATCAP1  microtubule associated tyrosine carboxypeptidase 1  KIAA0895L  KIAA0895 like  Symbol and/or name change 19259463 PROVISIONAL
2016-06-21 KIAA0895L  KIAA0895 like    KIAA0895-like  Symbol and/or name change 5135510 APPROVED