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TTC39C tetratricopeptide repeat domain 39C [ Homo sapiens (human) ]

Gene ID: 125488, updated on 24-Nov-2020

Summary

Official Symbol
TTC39Cprovided by HGNC
Official Full Name
tetratricopeptide repeat domain 39Cprovided by HGNC
Primary source
HGNC:HGNC:26595
See related
Ensembl:ENSG00000168234
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
HsT2697; C18orf17
Expression
Broad expression in liver (RPKM 7.1), skin (RPKM 3.6) and 20 other tissues See more
Orthologs

Genomic context

See TTC39C in Genome Data Viewer
Location:
18q11.2
Exon count:
20
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (23992843..24135970)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (21572737..21715574)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985181 Neighboring gene uncharacterized LOC105372023 Neighboring gene TTC39C antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 15364 Neighboring gene uncharacterized LOC112268213 Neighboring gene RNA, U5A small nuclear 6, pseudogene Neighboring gene calcium binding tyrosine phosphorylation regulated Neighboring gene RNA, 5S ribosomal pseudogene 452 Neighboring gene oxysterol binding protein like 1A

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

  • FLJ33761, FLJ90394

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
otolith morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
tetratricopeptide repeat protein 39C
Names
TPR repeat protein 39C

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_001135993.2NP_001129465.1  tetratricopeptide repeat protein 39C isoform 1

    See identical proteins and their annotated locations for NP_001129465.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC010754, AC090772, KF456356
    Consensus CDS
    CCDS45839.1
    UniProtKB/Swiss-Prot
    Q8N584
    Related
    ENSP00000323645.3, ENST00000317571.8
    Conserved Domains (1) summary
    pfam10300
    Location:34498
    DUF3808; Protein of unknown function (DUF3808)
  2. NM_001243425.2NP_001230354.1  tetratricopeptide repeat protein 39C isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and lacks a large portion of the 3' coding region, compared to variant 1. The encoded isoform (3) is significantly shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC016833
    Consensus CDS
    CCDS58616.1
    UniProtKB/Swiss-Prot
    Q8N584
    Related
    ENSP00000464344.1, ENST00000584250.1
    Conserved Domains (1) summary
    pfam10300
    Location:3458
    DUF3808; Protein of unknown function (DUF3808)
  3. NM_001292030.2NP_001278959.1  tetratricopeptide repeat protein 39C isoform 4 precursor

    See identical proteins and their annotated locations for NP_001278959.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks part of the 5' coding region, contains an alternate 5'-terminal exon, and uses an alternate start codon, compared to variant 1. The encoded isoform (4) has a shorter and distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AC090772, KF456356
    Consensus CDS
    CCDS77165.1
    UniProtKB/Swiss-Prot
    Q8N584
    UniProtKB/TrEMBL
    B7Z3X0, G3V1P2
    Related
    ENSP00000443016.1, ENST00000540918.2
    Conserved Domains (1) summary
    pfam10300
    Location:11191
    DUF3808; Protein of unknown function (DUF3808)
  4. NM_153211.4NP_694943.2  tetratricopeptide repeat protein 39C isoform 2

    See identical proteins and their annotated locations for NP_694943.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR, lacks an in-frame portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The resulting isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC010754, AC090772, KF456356
    Consensus CDS
    CCDS32804.1
    UniProtKB/Swiss-Prot
    Q8N584
    Related
    ENSP00000306598.6, ENST00000304621.10
    Conserved Domains (1) summary
    pfam10300
    Location:1437
    DUF3808; Protein of unknown function (DUF3808)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

    Range
    23992843..24135970
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017025550.2XP_016881039.1  tetratricopeptide repeat protein 39C isoform X2

    UniProtKB/Swiss-Prot
    Q8N584
    Conserved Domains (1) summary
    pfam10300
    Location:1437
    DUF3808; Protein of unknown function (DUF3808)
  2. XM_011525814.3XP_011524116.1  tetratricopeptide repeat protein 39C isoform X1

    Conserved Domains (1) summary
    pfam10300
    Location:34462
    DUF3808; Protein of unknown function (DUF3808)
  3. XM_006722392.3XP_006722455.1  tetratricopeptide repeat protein 39C isoform X3

    Conserved Domains (1) summary
    pfam10300
    Location:34329
    DUF3808; Protein of unknown function (DUF3808)
  4. XM_005258198.5XP_005258255.1  tetratricopeptide repeat protein 39C isoform X2

    See identical proteins and their annotated locations for XP_005258255.1

    UniProtKB/Swiss-Prot
    Q8N584
    Conserved Domains (1) summary
    pfam10300
    Location:1437
    DUF3808; Protein of unknown function (DUF3808)
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