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TMEM40 transmembrane protein 40 [ Homo sapiens (human) ]

Gene ID: 55287, updated on 1-Jun-2020

Summary

Official Symbol
TMEM40provided by HGNC
Official Full Name
transmembrane protein 40provided by HGNC
Primary source
HGNC:HGNC:25620
See related
Ensembl:ENSG00000088726
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
Expression
Biased expression in esophagus (RPKM 20.2), skin (RPKM 12.3) and 2 other tissues See more
Orthologs

Genomic context

See TMEM40 in Genome Data Viewer
Location:
3p25.2
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (12733528..12769457, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (12775392..12801038, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene makorin ring finger protein 2 Neighboring gene Raf-1 proto-oncogene, serine/threonine kinase Neighboring gene cysteine rich protein 1 pseudogene 1 Neighboring gene keratin 18 pseudogene 17 Neighboring gene cullin associated and neddylation dissociated 2 (putative) Neighboring gene ribosomal protein L32

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

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • FLJ11036

Gene Ontology Provided by GOA

Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

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_001284406.1NP_001271335.1  transmembrane protein 40 isoform a

    See identical proteins and their annotated locations for NP_001271335.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AI452552, AK001898, AK092470, AK301984
    UniProtKB/Swiss-Prot
    Q8WWA1
    UniProtKB/TrEMBL
    B4DXI0
    Conserved Domains (1) summary
    pfam15817
    Location:129248
    TMEM40; Transmembrane protein 40 family
  2. NM_001284407.2NP_001271336.1  transmembrane protein 40 isoform c

    See identical proteins and their annotated locations for NP_001271336.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream in-frame start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC034198, AI452552, AK092470, BC020658
    Consensus CDS
    CCDS68348.1
    UniProtKB/Swiss-Prot
    Q8WWA1
    Related
    ENSP00000405740.2, ENST00000435218.6
    Conserved Domains (1) summary
    pfam15817
    Location:83202
    TMEM40; Transmembrane protein 40 family
  3. NM_001284408.2NP_001271337.1  transmembrane protein 40 isoform d

    See identical proteins and their annotated locations for NP_001271337.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream in-frame start codon, and lacks two alternate in-frame exons in the central coding region, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC034198, AI452552, AK001898, AK092470, BG335433
    Consensus CDS
    CCDS68347.1
    UniProtKB/Swiss-Prot
    Q8WWA1
    Related
    ENSP00000396895.1, ENST00000435575.5
    Conserved Domains (1) summary
    pfam15817
    Location:37156
    TMEM40; Transmembrane protein 40 family
  4. NM_018306.4NP_060776.2  transmembrane protein 40 isoform b

    See identical proteins and their annotated locations for NP_060776.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AC034198, AI452552, AK001898, AK092470
    Consensus CDS
    CCDS2613.1
    UniProtKB/Swiss-Prot
    Q8WWA1
    Related
    ENSP00000322837.7, ENST00000314124.12
    Conserved Domains (1) summary
    pfam15817
    Location:113232
    TMEM40; Transmembrane protein 40 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    12733528..12769457 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533937.2XP_011532239.1  transmembrane protein 40 isoform X1

    See identical proteins and their annotated locations for XP_011532239.1

    UniProtKB/Swiss-Prot
    Q8WWA1
    Related
    ENSP00000264728.8, ENST00000264728.8
    Conserved Domains (1) summary
    pfam15817
    Location:113232
    TMEM40; Transmembrane protein 40 family
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