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TTC9C tetratricopeptide repeat domain 9C [ Homo sapiens (human) ]

Gene ID: 283237, updated on 26-May-2016
Official Symbol
TTC9Cprovided by HGNC
Official Full Name
tetratricopeptide repeat domain 9Cprovided by HGNC
Primary source
HGNC:HGNC:28432
See related
Ensembl:ENSG00000162222 HPRD:14530; Vega:OTTHUMG00000167607
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
Orthologs
Location:
11q12.3
Exon count:
6
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 11 NC_000011.10 (62728078..62738638)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62495545..62506110)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene HNRNPUL2-BSCL2 readthrough (NMD candidate) Neighboring gene BSCL2, seipin lipid droplet biogenesis associated Neighboring gene G protein subunit gamma 3 Neighboring gene heterogeneous nuclear ribonucleoprotein U-like 2 Neighboring gene zinc finger and BTB domain containing 3 Neighboring gene polymerase (RNA) II subunit G

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC29649

Gene Ontology Provided by GOA

Function Evidence Code Pubs
FK506 binding IBA
Inferred from Biological aspect of Ancestor
more info
 
peptidyl-prolyl cis-trans isomerase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
chaperone-mediated protein folding IBA
Inferred from Biological aspect of Ancestor
more info
 
protein peptidyl-prolyl isomerization IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
 
Preferred Names
tetratricopeptide repeat protein 9C
Names
TPR repeat protein 9C

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_001318812.1NP_001305741.1  tetratricopeptide repeat protein 9C isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    BC032123, BG720745
    UniProtKB/Swiss-Prot
    Q8N5M4
  2. NM_001318813.1NP_001305742.1  tetratricopeptide repeat protein 9C isoform a

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    BC032123, BQ050575
    UniProtKB/Swiss-Prot
    Q8N5M4
  3. NM_001318814.1NP_001305743.1  tetratricopeptide repeat protein 9C isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 4, 5, and 6 all encode the same isoform (b).
    Source sequence(s)
    BC032123, BX421356
    UniProtKB/Swiss-Prot
    Q8N5M4
    Conserved Domains (2) summary
    pfam13431
    Location:1444
    TPR_17; Tetratricopeptide repeat
    sd00006
    Location:2353
    TPR; TPR repeat [structural motif]
  4. NM_001318815.1NP_001305744.1  tetratricopeptide repeat protein 9C isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 4, 5, and 6 all encode the same isoform (b).
    Source sequence(s)
    BC032123, CN430374
    UniProtKB/Swiss-Prot
    Q8N5M4
    Conserved Domains (2) summary
    pfam13431
    Location:1444
    TPR_17; Tetratricopeptide repeat
    sd00006
    Location:2353
    TPR; TPR repeat [structural motif]
  5. NM_001318816.1NP_001305745.1  tetratricopeptide repeat protein 9C isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 4, 5, and 6 all encode the same isoform (b).
    Source sequence(s)
    BC032123, CN430377
    UniProtKB/Swiss-Prot
    Q8N5M4
    Conserved Domains (2) summary
    pfam13431
    Location:1444
    TPR_17; Tetratricopeptide repeat
    sd00006
    Location:2353
    TPR; TPR repeat [structural motif]
  6. NM_173810.3NP_776171.1  tetratricopeptide repeat protein 9C isoform a

    See identical proteins and their annotated locations for NP_776171.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform a. Variants 1, 2, and 3 all encode the same isoform (a).
    Source sequence(s)
    BC032123
    Consensus CDS
    CCDS8033.1
    UniProtKB/Swiss-Prot
    Q8N5M4
    Related
    ENSP00000325266, OTTHUMP00000236333, ENST00000316461, OTTHUMT00000395338
    Conserved Domains (3) summary
    pfam13414
    Location:6105
    TPR_11; TPR repeat
    pfam13424
    Location:68140
    TPR_12; Tetratricopeptide repeat
    sd00006
    Location:836
    TPR; TPR repeat [structural motif]

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_000011.10 Reference GRCh38.p2 Primary Assembly

    Range
    62728078..62738638
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005273931.1XP_005273988.1  

    Related
    ENSP00000435282, OTTHUMP00000236331, ENST00000530625, OTTHUMT00000395336
    Conserved Domains (3) summary
    pfam13414
    Location:6105
    TPR_11; TPR repeat
    pfam13424
    Location:68140
    TPR_12; Tetratricopeptide repeat
    sd00006
    Location:836
    TPR; TPR repeat [structural motif]
  2. XM_011544963.1XP_011543265.1  

    Conserved Domains (4) summary
    pfam07719
    Location:126159
    TPR_2; Tetratricopeptide repeat
    pfam13414
    Location:24123
    TPR_11; TPR repeat
    pfam13424
    Location:86158
    TPR_12; Tetratricopeptide repeat
    sd00006
    Location:2654
    TPR; TPR repeat [structural motif]
  3. XM_005273930.2XP_005273987.1  

    Related
    ENSP00000434340, OTTHUMP00000236334, ENST00000532583, OTTHUMT00000395339
    Conserved Domains (3) summary
    pfam13414
    Location:6105
    TPR_11; TPR repeat
    pfam13424
    Location:68140
    TPR_12; Tetratricopeptide repeat
    sd00006
    Location:836
    TPR; TPR repeat [structural motif]

RNA

  1. XR_247197.3 RNA Sequence

    Related
    ENST00000294161, OTTHUMT00000395337

Alternate CHM1_1.1

Genomic

  1. NC_018922.2 Alternate CHM1_1.1

    Range
    62379014..62389164
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)