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TMCO3 transmembrane and coiled-coil domains 3 [ Homo sapiens (human) ]

Gene ID: 55002, updated on 13-Mar-2020

Summary

Official Symbol
TMCO3provided by HGNC
Official Full Name
transmembrane and coiled-coil domains 3provided by HGNC
Primary source
HGNC:HGNC:20329
See related
Ensembl:ENSG00000150403 MIM:617134
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C13orf11
Summary
This gene encodes a member of the monovalent cation:proton antiporter 2 (CPA2) family of transporter proteins. Members of this family typically couple the export of monovalent cations, such as potassium or sodium, to the import of protons across cellular membranes. Mutations in this gene have been identified in patients with a rare inherited vision defect, cornea guttata with anterior polar cataract. [provided by RefSeq, Mar 2017]
Expression
Ubiquitous expression in stomach (RPKM 5.5), endometrium (RPKM 4.4) and 25 other tissues See more
Orthologs

Genomic context

See TMCO3 in Genome Data Viewer
Location:
13q34
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 13 NC_000013.11 (113490993..113550229)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (114145308..114204544)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene ADP-ribosylhydrolase like 1 Neighboring gene defective in cullin neddylation 1 domain containing 2 Neighboring gene RNA, U1 small nuclear 16, pseudogene Neighboring gene transcription factor Dp-1 Neighboring gene ATPase H+/K+ transporting subunit beta Neighboring gene G protein-coupled receptor kinase 1

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

  • FLJ20623

Gene Ontology Provided by GOA

Function Evidence Code Pubs
solute:proton antiporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane and coiled-coil domain-containing protein 3
Names
putative LAG1-interacting protein

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.

Genomic

  1. NG_053059.1 RefSeqGene

    Range
    5029..64237
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001349741.2NP_001336670.1  transmembrane and coiled-coil domain-containing protein 3 isoform 2 precursor

    Status: REVIEWED

    Source sequence(s)
    AK000630, AK074415, AL442125, BC068515
    Consensus CDS
    CCDS86365.1
    Related
    ENSP00000484053.1, ENST00000474393.5
    Conserved Domains (2) summary
    pfam00999
    Location:274511
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    cl25732
    Location:61253
    SMC_N; RecF/RecN/SMC N terminal domain
  2. NM_001349742.2NP_001336671.1  transmembrane and coiled-coil domain-containing protein 3 isoform 3 precursor

    Status: REVIEWED

    Source sequence(s)
    AK074415, AL442125
    Conserved Domains (2) summary
    pfam00999
    Location:210581
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    cl25732
    Location:61201
    SMC_N; RecF/RecN/SMC N terminal domain
  3. NM_001349743.2NP_001336672.1  transmembrane and coiled-coil domain-containing protein 3 isoform 4 precursor

    Status: REVIEWED

    Source sequence(s)
    AK074415, AL442125
    Conserved Domains (2) summary
    cl01133
    Location:210283
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    cl25732
    Location:26213
    SMC_N; RecF/RecN/SMC N terminal domain
  4. NM_001349744.2NP_001336673.1  transmembrane and coiled-coil domain-containing protein 3 isoform 5 precursor

    Status: REVIEWED

    Source sequence(s)
    AK074415, AL442125
    Conserved Domains (2) summary
    pfam00999
    Location:274560
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    cl25732
    Location:61253
    SMC_N; RecF/RecN/SMC N terminal domain
  5. NM_001349745.2NP_001336674.1  transmembrane and coiled-coil domain-containing protein 3 isoform 6 precursor

    Status: REVIEWED

    Source sequence(s)
    AK074415, AL442125
    Conserved Domains (2) summary
    pfam00999
    Location:210496
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    cl25732
    Location:26201
    SMC_N; RecF/RecN/SMC N terminal domain
  6. NM_001349746.2NP_001336675.1  transmembrane and coiled-coil domain-containing protein 3 isoform 7 precursor

    Status: REVIEWED

    Source sequence(s)
    AK074415, AL442125
    Conserved Domains (2) summary
    cl01133
    Location:274347
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    cl25732
    Location:26253
    SMC_N; RecF/RecN/SMC N terminal domain
  7. NM_017905.6NP_060375.4  transmembrane and coiled-coil domain-containing protein 3 isoform 1 precursor

    See identical proteins and their annotated locations for NP_060375.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK074415, BC068515
    Consensus CDS
    CCDS9537.1
    UniProtKB/Swiss-Prot
    Q6UWJ1
    UniProtKB/TrEMBL
    A0A024RE09
    Related
    ENSP00000389399.2, ENST00000434316.7
    Conserved Domains (2) summary
    pfam00999
    Location:274645
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    pfam01519
    Location:88195
    DUF16; Protein of unknown function DUF16

RNA

  1. NR_146221.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK074415, AL442125
  2. NR_146222.2 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK074415, AL442125

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_000013.11 Reference GRCh38.p13 Primary Assembly

    Range
    113490993..113550229
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017020630.1XP_016876119.1  transmembrane and coiled-coil domain-containing protein 3 isoform X2

  2. XM_017020634.2XP_016876123.1  transmembrane and coiled-coil domain-containing protein 3 isoform X5

    Conserved Domains (2) summary
    pfam01519
    Location:88195
    DUF16; Protein of unknown function DUF16
    cl01133
    Location:274347
    Na_H_Exchanger; Sodium/hydrogen exchanger family
  3. XM_011537506.2XP_011535808.1  transmembrane and coiled-coil domain-containing protein 3 isoform X8

    Conserved Domains (2) summary
    pfam01519
    Location:88195
    DUF16; Protein of unknown function DUF16
    cl01133
    Location:274347
    Na_H_Exchanger; Sodium/hydrogen exchanger family
  4. XM_011537501.2XP_011535803.1  transmembrane and coiled-coil domain-containing protein 3 isoform X3

    Conserved Domains (2) summary
    pfam00999
    Location:274453
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    pfam01519
    Location:88195
    DUF16; Protein of unknown function DUF16
  5. XM_011537504.2XP_011535806.1  transmembrane and coiled-coil domain-containing protein 3 isoform X6

    Conserved Domains (2) summary
    pfam00999
    Location:274447
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    pfam01519
    Location:88195
    DUF16; Protein of unknown function DUF16
  6. XM_024449370.1XP_024305138.1  transmembrane and coiled-coil domain-containing protein 3 isoform X10

    Conserved Domains (2) summary
    cl01133
    Location:210383
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    cl25732
    Location:61201
    SMC_N; RecF/RecN/SMC N terminal domain
  7. XM_017020636.1XP_016876125.1  transmembrane and coiled-coil domain-containing protein 3 isoform X7

    Related
    ENSP00000364540.1, ENST00000375391.5
    Conserved Domains (2) summary
    pfam01519
    Location:88195
    DUF16; Protein of unknown function DUF16
    cl01133
    Location:274408
    Na_H_Exchanger; Sodium/hydrogen exchanger family
  8. XM_011537507.2XP_011535809.1  transmembrane and coiled-coil domain-containing protein 3 isoform X9

    Conserved Domains (2) summary
    pfam01519
    Location:88195
    DUF16; Protein of unknown function DUF16
    cl01133
    Location:274408
    Na_H_Exchanger; Sodium/hydrogen exchanger family
  9. XM_011537509.2XP_011535811.1  transmembrane and coiled-coil domain-containing protein 3 isoform X11

    Conserved Domains (1) summary
    cl01133
    Location:274346
    Na_H_Exchanger; Sodium/hydrogen exchanger family
  10. XM_011537502.3XP_011535804.1  transmembrane and coiled-coil domain-containing protein 3 isoform X4

    Conserved Domains (2) summary
    pfam00999
    Location:274511
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    pfam01519
    Location:88195
    DUF16; Protein of unknown function DUF16
  11. XM_006719969.1XP_006720032.1  transmembrane and coiled-coil domain-containing protein 3 isoform X1

    See identical proteins and their annotated locations for XP_006720032.1

    UniProtKB/Swiss-Prot
    Q6UWJ1
    UniProtKB/TrEMBL
    A0A024RE09
    Conserved Domains (2) summary
    pfam00999
    Location:274645
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    pfam01519
    Location:88195
    DUF16; Protein of unknown function DUF16
  12. XM_011537498.2XP_011535800.1  transmembrane and coiled-coil domain-containing protein 3 isoform X1

    See identical proteins and their annotated locations for XP_011535800.1

    UniProtKB/Swiss-Prot
    Q6UWJ1
    UniProtKB/TrEMBL
    A0A024RE09
    Conserved Domains (2) summary
    pfam00999
    Location:274645
    Na_H_Exchanger; Sodium/hydrogen exchanger family
    pfam01519
    Location:88195
    DUF16; Protein of unknown function DUF16

RNA

  1. XR_001749590.2 RNA Sequence

  2. XR_002957454.1 RNA Sequence

  3. XR_944279.3 RNA Sequence

  4. XR_001749587.2 RNA Sequence

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