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TMEM54 transmembrane protein 54 [ Homo sapiens (human) ]

Gene ID: 113452, updated on 18-Aug-2020

Summary

Official Symbol
TMEM54provided by HGNC
Official Full Name
transmembrane protein 54provided by HGNC
Primary source
HGNC:HGNC:24143
See related
Ensembl:ENSG00000121900
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BCLP; CAC1; CAC-1
Expression
Broad expression in colon (RPKM 134.2), small intestine (RPKM 52.7) and 15 other tissues See more
Orthologs

Genomic context

See TMEM54 in Genome Data Viewer
Location:
1p35.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (32894595..32901389, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (33360196..33367041, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene fibronectin type III domain containing 5 Neighboring gene uncharacterized LOC105378631 Neighboring gene hippocalcin Neighboring gene uncharacterized LOC105378632 Neighboring gene ring finger protein 19B Neighboring gene metallothionein-1E pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC10137

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane protein 54
Names
beta-casein-like protein
protein CAC-1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001329722.2NP_001316651.1  transmembrane protein 54 isoform 1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC114493
    Conserved Domains (1) summary
    pfam12304
    Location:18198
    BCLP; Beta-casein like protein
  2. NM_001329723.2NP_001316652.1  transmembrane protein 54 isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate in-frame splice junction in the 3' end of the coding sequence and lacks an in-frame exon compared to variant 1. The resulting isoform (3) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC114493, AY359883, BC001418, BG703627, CN401565
    UniProtKB/Swiss-Prot
    Q969K7
    Conserved Domains (1) summary
    pfam12304
    Location:18179
    BCLP; Beta-casein like protein
  3. NM_001329724.2NP_001316653.1  transmembrane protein 54 isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses two alternate in-frame splice junctions compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AC114493, BC001418, BG703627, BI761922, CN401565
    UniProtKB/Swiss-Prot
    Q969K7
    Related
    ENST00000474144.5
  4. NM_001329725.2NP_001316654.1  transmembrane protein 54 isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses two alternate in-frame splice junctions and lacks an alternate in-frame exon compared to variant 1. The resulting isoform (5) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    BC023260
    Consensus CDS
    CCDS85954.1
    UniProtKB/Swiss-Prot
    Q969K7
    Related
    ENSP00000328630.5, ENST00000329151.5
    Conserved Domains (1) summary
    pfam12304
    Location:18146
    BCLP; Beta-casein like protein
  5. NM_033504.4NP_277039.1  transmembrane protein 54 isoform 2

    See identical proteins and their annotated locations for NP_277039.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice junction in the 3' end of the coding sequence compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    BC001418, CN401565
    Consensus CDS
    CCDS371.1
    UniProtKB/Swiss-Prot
    Q969K7
    Related
    ENSP00000362562.3, ENST00000373463.8
    Conserved Domains (1) summary
    pfam12304
    Location:18199
    BCLP; Beta-casein like protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    32894595..32901389 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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