TMEM54 (transmembrane protein 54) - Rat Genome Database

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Gene: TMEM54 (transmembrane protein 54) Homo sapiens
Analyze
Symbol: TMEM54
Name: transmembrane protein 54
RGD ID: 1606187
HGNC Page HGNC:24143
Description: Predicted to be located in membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: BCLP; beta-casein-like protein; CAC-1; CAC1; cervical adenocarcinoma cell line 1 cDNA; MGC10137
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
GRCh38132,894,595 - 32,901,389 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl132,894,594 - 32,901,438 (-)EnsemblGRCh38hg38GRCh38
GRCh37133,360,196 - 33,366,990 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36133,132,783 - 33,139,540 (-)NCBINCBI36Build 36hg18NCBI36
Celera131,628,831 - 31,635,588 (-)NCBICelera
Cytogenetic Map1p35.1NCBI
HuRef131,475,318 - 31,482,074 (-)NCBIHuRef
CHM1_1133,475,629 - 33,482,371 (-)NCBICHM1_1
T2T-CHM13v2.0132,754,390 - 32,761,183 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9500206   PMID:11394883   PMID:11724320   PMID:12477932   PMID:15146197   PMID:15489334   PMID:19829063   PMID:21516116   PMID:21988832   PMID:22982681   PMID:24623722   PMID:32296183  
PMID:32814053   PMID:38169186  


Genomics

Comparative Map Data
TMEM54
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38132,894,595 - 32,901,389 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl132,894,594 - 32,901,438 (-)EnsemblGRCh38hg38GRCh38
GRCh37133,360,196 - 33,366,990 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36133,132,783 - 33,139,540 (-)NCBINCBI36Build 36hg18NCBI36
Celera131,628,831 - 31,635,588 (-)NCBICelera
Cytogenetic Map1p35.1NCBI
HuRef131,475,318 - 31,482,074 (-)NCBIHuRef
CHM1_1133,475,629 - 33,482,371 (-)NCBICHM1_1
T2T-CHM13v2.0132,754,390 - 32,761,183 (-)NCBIT2T-CHM13v2.0
Tmem54
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394128,999,321 - 129,005,419 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4128,999,341 - 129,005,419 (+)EnsemblGRCm39 Ensembl
GRCm384129,105,529 - 129,111,626 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4129,105,548 - 129,111,626 (+)EnsemblGRCm38mm10GRCm38
MGSCv374128,782,860 - 128,788,829 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364128,607,920 - 128,613,889 (+)NCBIMGSCv36mm8
Celera4127,445,640 - 127,451,609 (+)NCBICelera
Cytogenetic Map4D2.2NCBI
cM Map462.86NCBI
Tmem54
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85146,733,557 - 146,740,048 (+)NCBIGRCr8
mRatBN7.25141,449,191 - 141,455,683 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5141,449,191 - 141,455,682 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5144,147,232 - 144,153,748 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05145,917,056 - 145,923,569 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05145,916,823 - 145,923,321 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05147,288,700 - 147,295,191 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5147,288,723 - 147,296,702 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05151,023,461 - 151,029,952 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45148,261,422 - 148,267,913 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15148,271,435 - 148,277,927 (+)NCBI
Celera5139,929,148 - 139,935,638 (+)NCBICelera
Cytogenetic Map5q36NCBI
Tmem54
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545211,150,971 - 11,154,893 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545211,150,749 - 11,156,402 (-)NCBIChiLan1.0ChiLan1.0
TMEM54
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21193,920,927 - 193,927,739 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11193,043,132 - 193,049,941 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0132,185,082 - 32,191,891 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1133,371,471 - 33,378,394 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl133,371,471 - 33,378,391 (-)Ensemblpanpan1.1panPan2
TMEM54
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1268,458,489 - 68,464,684 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl268,458,179 - 68,465,185 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha265,038,474 - 65,044,645 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0269,023,651 - 69,029,863 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl269,023,503 - 69,030,362 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1265,835,242 - 65,841,393 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0266,857,690 - 66,863,860 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0267,849,560 - 67,855,741 (+)NCBIUU_Cfam_GSD_1.0
Tmem54
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505849,969,996 - 49,975,907 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647415,795,017 - 15,801,133 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647415,794,778 - 15,800,604 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM54
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl689,196,566 - 89,203,900 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1689,196,995 - 89,203,954 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2683,224,049 - 83,231,008 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM54
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12099,967,808 - 99,975,003 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2099,967,812 - 99,976,219 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603316,717,324 - 16,724,512 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem54
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476415,999,785 - 16,002,872 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476415,999,569 - 16,005,308 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMEM54
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1 copy number loss See cases [RCV000053802] Chr1:30766758..33359428 [GRCh38]
Chr1:31239605..33825029 [GRCh37]
Chr1:31012192..33597616 [NCBI36]
Chr1:1p35.2-35.1		 pathogenic
GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1 copy number loss See cases [RCV000135447] Chr1:28424867..33122854 [GRCh38]
Chr1:28751378..33588455 [GRCh37]
Chr1:28623965..33361042 [NCBI36]
Chr1:1p35.3-35.1		 pathogenic
GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3 copy number gain See cases [RCV000138891] Chr1:24381206..41401517 [GRCh38]
Chr1:24707696..41886350 [GRCh37]
Chr1:24580283..41658937 [NCBI36]
Chr1:1p36.11-34.2		 pathogenic
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease dominant intermediate C [RCV000708276] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p35.2-34.3(chr1:31562164-37421958)x3 copy number gain not provided [RCV000748949] Chr1:31562164..37421958 [GRCh37]
Chr1:1p35.2-34.3		 pathogenic
GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915) copy number loss not provided [RCV000767772] Chr1:32859415..36454915 [GRCh37]
Chr1:1p35.1-34.3		 pathogenic
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3 copy number gain not provided [RCV001005079] Chr1:30819875..34380419 [GRCh37]
Chr1:1p35.2-35.1		 likely pathogenic
NC_000001.10:g.(?_33241563)_(46663513_?)dup duplication Charcot-Marie-Tooth disease, dominant intermediate C [RCV001308684] Chr1:33241563..46663513 [GRCh37]
Chr1:1p35.1-34.1		 uncertain significance
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NM_033504.4(TMEM54):c.218C>G (p.Thr73Ser) single nucleotide variant Inborn genetic diseases [RCV002821601] Chr1:32895962 [GRCh38]
Chr1:33361563 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_033504.4(TMEM54):c.62G>T (p.Gly21Val) single nucleotide variant Inborn genetic diseases [RCV002956357] Chr1:32898274 [GRCh38]
Chr1:33363875 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_033504.4(TMEM54):c.136G>A (p.Val46Met) single nucleotide variant Inborn genetic diseases [RCV003004338] Chr1:32898200 [GRCh38]
Chr1:33363801 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_033504.4(TMEM54):c.572G>C (p.Trp191Ser) single nucleotide variant Inborn genetic diseases [RCV002666223] Chr1:32895327 [GRCh38]
Chr1:33360928 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_033504.4(TMEM54):c.338T>C (p.Leu113Ser) single nucleotide variant Inborn genetic diseases [RCV002983898] Chr1:32895676 [GRCh38]
Chr1:33361277 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_033504.4(TMEM54):c.545A>G (p.His182Arg) single nucleotide variant Inborn genetic diseases [RCV002805062] Chr1:32895354 [GRCh38]
Chr1:33360955 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_033504.4(TMEM54):c.106G>T (p.Ala36Ser) single nucleotide variant Inborn genetic diseases [RCV002919907] Chr1:32898230 [GRCh38]
Chr1:33363831 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_033504.4(TMEM54):c.613C>G (p.Leu205Val) single nucleotide variant Inborn genetic diseases [RCV003206066] Chr1:32894861 [GRCh38]
Chr1:33360462 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_033504.4(TMEM54):c.625C>G (p.Arg209Gly) single nucleotide variant Inborn genetic diseases [RCV003205003] Chr1:32894849 [GRCh38]
Chr1:33360450 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_033504.4(TMEM54):c.502G>A (p.Val168Met) single nucleotide variant Inborn genetic diseases [RCV003178969] Chr1:32895397 [GRCh38]
Chr1:33360998 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_033504.4(TMEM54):c.208G>A (p.Val70Met) single nucleotide variant Inborn genetic diseases [RCV003356822] Chr1:32898128 [GRCh38]
Chr1:33363729 [GRCh37]
Chr1:1p35.1		 uncertain significance
NM_033504.4(TMEM54):c.34G>T (p.Asp12Tyr) single nucleotide variant Inborn genetic diseases [RCV003381277] Chr1:32898302 [GRCh38]
Chr1:33363903 [GRCh37]
Chr1:1p35.1		 uncertain significance
GRCh37/hg19 1p35.1(chr1:33099109-33528691)x1 copy number loss not provided [RCV003483127] Chr1:33099109..33528691 [GRCh37]
Chr1:1p35.1		 uncertain significance
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 copy number gain Trisomy 12p [RCV003447845] Chr1:99125..34026935 [GRCh38]
Chr1:1p36.33-35.1		 pathogenic
NM_033504.4(TMEM54):c.636_649del (p.Leu212_Ser213insTer) deletion not specified [RCV003489637] Chr1:32894825..32894838 [GRCh38]
Chr1:33360426..33360439 [GRCh37]
Chr1:1p35.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1882
Count of miRNA genes:686
Interacting mature miRNAs:828
Transcripts:ENST00000329151, ENST00000373463, ENST00000463914, ENST00000474144, ENST00000475208, ENST00000482771
Prediction methods:Miranda, Rnahybrid
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
RH15950  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37133,360,056 - 33,360,207UniSTSGRCh37
Build 36133,132,643 - 33,132,794RGDNCBI36
Celera131,628,691 - 31,628,842RGD
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map1p35-p34.2UniSTS
HuRef131,475,178 - 31,475,329UniSTS
GeneMap99-GB4 RH Map1103.96UniSTS
D1S285E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37133,359,989 - 33,360,084UniSTSGRCh37
Build 36133,132,576 - 33,132,671RGDNCBI36
Celera131,628,624 - 31,628,719RGD
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map1p35-p34.2UniSTS
HuRef131,475,111 - 31,475,206UniSTS
SHGC-32985  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37191,598,058 - 1,598,188UniSTSGRCh37
Build 36191,549,058 - 1,549,188RGDNCBI36
Celera191,532,914 - 1,533,044RGD
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1p35-p34UniSTS
HuRef191,372,001 - 1,372,131UniSTS


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 4 5
Medium 2430 1231 1294 297 445 139 2883 1021 3412 366 1428 1588 174 1 942 1520 6 1
Low 3 1240 428 326 789 325 1471 1170 322 53 27 24 1 262 1265 1
Below cutoff 1 485 1 1 615 1 3 4 1 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001329722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB012692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC114493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY027543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY359883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG703627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI761922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN401565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000329151   ⟹   ENSP00000328630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl132,894,595 - 32,901,389 (-)Ensembl
RefSeq Acc Id: ENST00000373463   ⟹   ENSP00000362562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl132,894,595 - 32,901,389 (-)Ensembl
RefSeq Acc Id: ENST00000463914
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl132,895,305 - 32,897,756 (-)Ensembl
RefSeq Acc Id: ENST00000474144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl132,894,741 - 32,901,352 (-)Ensembl
RefSeq Acc Id: ENST00000475208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl132,894,846 - 32,901,438 (-)Ensembl
RefSeq Acc Id: ENST00000482771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl132,894,594 - 32,895,587 (-)Ensembl
RefSeq Acc Id: NM_001329722   ⟹   NP_001316651
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38132,894,595 - 32,901,389 (-)NCBI
T2T-CHM13v2.0132,754,390 - 32,761,183 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329723   ⟹   NP_001316652
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38132,894,595 - 32,901,389 (-)NCBI
T2T-CHM13v2.0132,754,390 - 32,761,183 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329724   ⟹   NP_001316653
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38132,894,595 - 32,901,389 (-)NCBI
T2T-CHM13v2.0132,754,390 - 32,761,183 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001329725   ⟹   NP_001316654
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38132,894,595 - 32,901,389 (-)NCBI
T2T-CHM13v2.0132,754,390 - 32,761,183 (-)NCBI
Sequence:
RefSeq Acc Id: NM_033504   ⟹   NP_277039
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38132,894,595 - 32,901,389 (-)NCBI
GRCh37133,360,196 - 33,367,041 (-)NCBI
Build 36133,132,783 - 33,139,540 (-)NCBI Archive
Celera131,628,831 - 31,635,588 (-)RGD
HuRef131,475,318 - 31,482,074 (-)ENTREZGENE
CHM1_1133,475,629 - 33,482,371 (-)NCBI
T2T-CHM13v2.0132,754,390 - 32,761,183 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_277039   ⟸   NM_033504
- Peptide Label: isoform 2
- UniProtKB: Q8IVD0 (UniProtKB/Swiss-Prot),   Q6UV18 (UniProtKB/Swiss-Prot),   Q9UM12 (UniProtKB/Swiss-Prot),   Q969K7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316654   ⟸   NM_001329725
- Peptide Label: isoform 5
- UniProtKB: Q969K7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316652   ⟸   NM_001329723
- Peptide Label: isoform 3
- UniProtKB: Q969K7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316653   ⟸   NM_001329724
- Peptide Label: isoform 4
- UniProtKB: Q969K7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001316651   ⟸   NM_001329722
- Peptide Label: isoform 1
- Sequence:
RefSeq Acc Id: ENSP00000362562   ⟸   ENST00000373463
RefSeq Acc Id: ENSP00000328630   ⟸   ENST00000329151

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q969K7-F1-model_v2 AlphaFold Q969K7 1-222 view protein structure

Promoters
RGD ID:6854882
Promoter ID:EPDNEW_H606
Type:initiation region
Name:TMEM54_1
Description:transmembrane protein 54
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38132,901,389 - 32,901,449EPDNEW
RGD ID:6785208
Promoter ID:HG_KWN:1869
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   NB4
Transcripts:ENST00000329151,   ENST00000373463,   OTTHUMT00000011477,   UC001BWK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36133,139,204 - 33,139,704 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:24143 AgrOrtholog
COSMIC TMEM54 COSMIC
Ensembl Genes ENSG00000121900 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000329151 ENTREZGENE
  ENST00000329151.5 UniProtKB/Swiss-Prot
  ENST00000373463 ENTREZGENE
  ENST00000373463.8 UniProtKB/Swiss-Prot
  ENST00000474144 ENTREZGENE
GTEx ENSG00000121900 GTEx
HGNC ID HGNC:24143 ENTREZGENE
Human Proteome Map TMEM54 Human Proteome Map
InterPro Beta-casein-like UniProtKB/Swiss-Prot
KEGG Report hsa:113452 UniProtKB/Swiss-Prot
NCBI Gene 113452 ENTREZGENE
PANTHER PTHR31258 UniProtKB/Swiss-Prot
  TRANSMEMBRANE PROTEIN 54 UniProtKB/Swiss-Prot
Pfam BCLP UniProtKB/Swiss-Prot
PharmGKB PA142670770 PharmGKB
UniProt Q6UV18 ENTREZGENE
  Q8IVD0 ENTREZGENE
  Q969K7 ENTREZGENE
  Q9UM12 ENTREZGENE
  TMM54_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q6UV18 UniProtKB/Swiss-Prot
  Q8IVD0 UniProtKB/Swiss-Prot
  Q9UM12 UniProtKB/Swiss-Prot