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TTC39B tetratricopeptide repeat domain 39B [ Homo sapiens (human) ]

Gene ID: 158219, updated on 8-May-2016
Official Symbol
TTC39Bprovided by HGNC
Official Full Name
tetratricopeptide repeat domain 39Bprovided by HGNC
Primary source
HGNC:HGNC:23704
See related
Ensembl:ENSG00000155158 HPRD:10801; MIM:613574
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
C9orf52
Orthologs
Location:
9p22.3
Exon count:
23
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 9 NC_000009.12 (15170844..15307360, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (15170842..15307358, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene PC4 and SFRS1 interacting protein 1 pseudogene 1 Neighboring gene uncharacterized LOC105375981 Neighboring gene ribosomal protein L7 pseudogene 33 Neighboring gene small nuclear RNA activating complex polypeptide 3 Neighboring gene PC4 and SFRS1 interacting protein 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.
NHGRI GWA Catalog
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
NHGRI GWA Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
NHGRI GWA Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
NHGRI GWA Catalog
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
NHGRI GWA Catalog
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ33868

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Preferred Names
tetratricopeptide repeat protein 39B
Names
TPR repeat protein 39B

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_001168339.1NP_001161811.1  tetratricopeptide repeat protein 39B isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
    Source sequence(s)
    AI473911, AK310271, AK310482, BC038592, BC142985, BX105862
    UniProtKB/Swiss-Prot
    Q5VTQ0
    Conserved Domains (2) summary
    pfam10300
    Location:142596
    DUF3808; Protein of unknown function (DUF3808)
    pfam13424
    Location:590656
    TPR_12; Tetratricopeptide repeat
  2. NM_001168340.1NP_001161812.1  tetratricopeptide repeat protein 39B isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences in the central coding region but maintains the reading frame, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
    Source sequence(s)
    AK298998, AK310482, AL591393, BC142985
    Consensus CDS
    CCDS55296.1
    UniProtKB/Swiss-Prot
    Q5VTQ0
    Related
    ENSP00000370231, ENST00000380850
    Conserved Domains (3) summary
    pfam10300
    Location:142585
    DUF3808; Protein of unknown function (DUF3808)
    pfam13424
    Location:579645
    TPR_12; Tetratricopeptide repeat
    sd00006
    Location:574606
    TPR; TPR repeat [structural motif]
  3. NM_001168341.1NP_001161813.1  tetratricopeptide repeat protein 39B isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This variant encodes isoform 4, which is shorter than isoform 1.
    Source sequence(s)
    AK298581, AK310271, AK310482, AL591393, BC042417, BC142985
    Consensus CDS
    CCDS55295.1
    UniProtKB/Swiss-Prot
    Q5VTQ0
    Related
    ENSP00000297615, ENST00000297615
    Conserved Domains (2) summary
    pfam10300
    Location:81529
    DUF3808; Protein of unknown function (DUF3808)
    pfam13424
    Location:523589
    TPR_12; Tetratricopeptide repeat
  4. NM_001168342.1NP_001161814.1  tetratricopeptide repeat protein 39B isoform 5

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an in-frame downstream AUG and result an isoform (5) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AI473911, AK301427, AK310271, AL591393, BC142985, BX105862, DT217817
    Consensus CDS
    CCDS55294.1
    UniProtKB/Swiss-Prot
    Q5VTQ0
    Related
    ENSP00000423392, OTTHUMP00000223199, ENST00000507993, OTTHUMT00000371769
    Conserved Domains (2) summary
    pfam10300
    Location:1433
    DUF3808; Protein of unknown function (DUF3808)
    pfam13424
    Location:427493
    TPR_12; Tetratricopeptide repeat
  5. NM_152574.2NP_689787.2  tetratricopeptide repeat protein 39B isoform 1

    See identical proteins and their annotated locations for NP_689787.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK091187, AK310482, AL591393, BC142985
    Consensus CDS
    CCDS6477.2
    UniProtKB/Swiss-Prot
    Q5VTQ0
    Related
    ENSP00000422496, OTTHUMP00000021065, ENST00000512701, OTTHUMT00000051758
    Conserved Domains (2) summary
    pfam10300
    Location:142598
    DUF3808; Protein of unknown function (DUF3808)
    pfam13424
    Location:592658
    TPR_12; Tetratricopeptide repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p2 Primary Assembly

    Range
    15170844..15307360 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517732.1XP_011516034.1  

    UniProtKB/Swiss-Prot
    Q5VTQ0
    Conserved Domains (2) summary
    pfam10300
    Location:45501
    DUF3808; Protein of unknown function (DUF3808)
    pfam13424
    Location:495561
    TPR_12; Tetratricopeptide repeat
  2. XM_011517733.1XP_011516035.1  

    Conserved Domains (1) summary
    pfam10300
    Location:142496
    DUF3808; Protein of unknown function (DUF3808)

Alternate CHM1_1.1

Genomic

  1. NC_018920.2 Alternate CHM1_1.1

    Range
    15171189..15307662 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)