IQANK1 (IQ motif and ankyrin repeat containing 1) - Rat Genome Database

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Gene: IQANK1 (IQ motif and ankyrin repeat containing 1) Homo sapiens
Analyze
Symbol: IQANK1
Name: IQ motif and ankyrin repeat containing 1
RGD ID: 12789538
HGNC Page HGNC
Description: Predicted to be involved in regulation of barbed-end actin filament capping. Predicted to localize to cytoplasm and nucleus; INTERACTS WITH acrylamide; aflatoxin B1; cisplatin.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FAM83H antisense RNA 1 (head to head); FAM83H-AS1; FAM83HAS1; IQ motif and ankyrin repeat domain-containing protein 1; IQ motif and ankyrin repeat domain-containing protein LOC642574; onco-lncRNA-3; putative IQ motif and ankyrin repeat domain-containing protein LOC642574; RP11-429J17.6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,734,140 - 143,790,644 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8143,734,139 - 143,790,645 (+)EnsemblGRCh38hg38GRCh38
GRCh388143,734,139 - 143,790,702 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,816,309 - 144,872,815 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,925,288 - 144,944,766 (+)NCBINCBI36hg18NCBI36
Celera8141,166,250 - 141,185,680 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,106,299 - 140,125,763 (+)NCBIHuRef
CHM1_18144,893,558 - 144,913,114 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component
cytoplasm  (IBA)
nucleus  (IBA)

References
Additional References at PubMed
PMID:11181995   PMID:14702039   PMID:16421571   PMID:21873635   PMID:25116943   PMID:25864709   PMID:27895496   PMID:28198463   PMID:29434883   PMID:29870057   PMID:30537032   PMID:30831080  
PMID:30842470   PMID:31102263   PMID:31210291   PMID:31545230   PMID:31599410   PMID:31871129  


Genomics

Comparative Map Data
IQANK1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8143,734,140 - 143,790,644 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8143,734,139 - 143,790,645 (+)EnsemblGRCh38hg38GRCh38
GRCh388143,734,139 - 143,790,702 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378144,816,309 - 144,872,815 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368144,925,288 - 144,944,766 (+)NCBINCBI36hg18NCBI36
Celera8141,166,250 - 141,185,680 (+)NCBI
Cytogenetic Map8q24.3NCBI
HuRef8140,106,299 - 140,125,763 (+)NCBIHuRef
CHM1_18144,893,558 - 144,913,114 (+)NCBICHM1_1
Iqank1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391575,881,320 - 75,918,830 (+)NCBIGRCm39mm39
GRCm39 Ensembl1575,881,737 - 75,918,830 (+)Ensembl
GRCm381576,009,435 - 76,046,981 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,009,888 - 76,046,981 (+)EnsemblGRCm38mm10GRCm38
MGSCv371575,839,499 - 75,865,669 (+)NCBIGRCm37mm9NCBIm37
MGSCv361575,837,149 - 75,862,494 (+)NCBImm8
Celera1577,510,116 - 77,536,166 (+)NCBICelera
Cytogenetic Map15D3NCBI
Iqank1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27107,724,962 - 107,759,163 (+)NCBI
Rnor_6.07117,071,381 - 117,105,630 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.07117,057,208 - 117,091,301 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,049,463 - 114,077,553 (+)NCBIRGSC3.4rn4RGSC3.4
Celera7104,078,748 - 104,115,897 (+)NCBICelera
Cytogenetic Map7q34NCBI
Iqank1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,432,299 - 2,461,364 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,427,621 - 2,461,556 (+)NCBIChiLan1.0ChiLan1.0
IQANK1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18143,555,823 - 143,557,189 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,501,840 - 143,557,167 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08140,543,142 - 140,544,646 (+)NCBIMhudiblu_PPA_v0panPan3
IQANK1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Dog10K_Boxer_Tasha1337,306,295 - 37,312,477 (+)NCBI
ROS_Cfam_1.01337,821,726 - 37,827,910 (+)NCBI
UMICH_Zoey_3.11337,495,834 - 37,502,012 (+)NCBI
UNSW_CanFamBas_1.01337,612,776 - 37,618,957 (+)NCBI
UU_Cfam_GSD_1.01338,094,109 - 38,100,291 (+)NCBI
Iqank1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303944,199 - 983,887 (-)NCBI
SpeTri2.0NW_0049364708,370,298 - 8,376,608 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
IQANK1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4852,572 - 894,779 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14852,218 - 896,425 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
IQANK1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18137,949,992 - 138,008,335 (+)NCBI
Iqank1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473513,010,620 - 13,028,292 (-)NCBI


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 appendage entire extraembryonic component pharyngeal arch
High
Medium 178 14 7 4 11 9 2 1 36 208 176 8 3
Low 32 12 137 84 117 83 273 37 64 233 124 186 2 1 2 2 1
Below cutoff 10 17 148 139 495 139 20 23 90 38 11 19 2 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000527139   ⟹   ENSP00000489685
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,734,140 - 143,790,644 (+)Ensembl
RefSeq Acc Id: ENST00000532625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,789,515 - 143,790,275 (+)Ensembl
RefSeq Acc Id: ENST00000533004   ⟹   ENSP00000490151
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,734,140 - 143,746,337 (+)Ensembl
RefSeq Acc Id: ENST00000534089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,788,920 - 143,790,135 (+)Ensembl
RefSeq Acc Id: ENST00000534398
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8143,739,396 - 143,742,135 (+)Ensembl
RefSeq Acc Id: NM_001381874   ⟹   NP_001368803
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,734,139 - 143,790,645 (+)NCBI
RefSeq Acc Id: NM_001381875   ⟹   NP_001368804
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,734,139 - 143,746,337 (+)NCBI
RefSeq Acc Id: XM_017014127   ⟹   XP_016869616
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388143,771,130 - 143,790,702 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001368803 (Get FASTA)   NCBI Sequence Viewer  
  NP_001368804 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869616 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein A8MXQ7 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: XP_016869616   ⟸   XM_017014127
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: NP_001368803   ⟸   NM_001381874
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001368804   ⟸   NM_001381875
- Peptide Label: isoform 2
RefSeq Acc Id: ENSP00000490151   ⟸   ENST00000533004
RefSeq Acc Id: ENSP00000489685   ⟸   ENST00000527139
Protein Domains
ANK_REP_REGION   IQ


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:49576 AgrOrtholog
COSMIC IQANK1 COSMIC
Ensembl Genes ENSG00000203499 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000489685 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000490151 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000527139 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000533004 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.20 UniProtKB/Swiss-Prot
GTEx ENSG00000203499 GTEx
HGNC ID HGNC:49576 ENTREZGENE
Human Proteome Map IQANK1 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot
  Ankyrin_rpt-contain_dom UniProtKB/Swiss-Prot
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot
  IQ_motif_EF-hand-BS UniProtKB/Swiss-Prot
NCBI Gene IQANK1 ENTREZGENE
OMIM 618942 OMIM
PharmGKB PA166181547 PharmGKB
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot
  ANK_REPEAT UniProtKB/Swiss-Prot
  PS50096 UniProtKB/Swiss-Prot
SMART ANK UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot
UniProt A0A1B0GUK7_HUMAN UniProtKB/TrEMBL
  A8MXQ7 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A0A1B0GTG1 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-04-23 IQANK1  IQ motif and ankyrin repeat containing 1  FAM83H-AS1  FAM83H antisense RNA 1 (head to head)  Data Merged 737654 PROVISIONAL