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

Summary

Official Symbol: TTC9Cprovided by HGNC
Official Full Name: tetratricopeptide repeat domain 9Cprovided by HGNC
Primary source: HGNC:HGNC:28432
See related: Ensembl:ENSG00000162222 AllianceGenome:HGNC:28432
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: Ubiquitous expression in lymph node (RPKM 5.7), ovary (RPKM 5.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11q12.3

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (62728049..62738636)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (62717443..62728026)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (62495649..62506108)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2560 (e-PCR)
- UniSTS:37928

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

WI-15000 (e-PCR)
- UniSTS:64161

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

General protein information

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Preferred Names: tetratricopeptide repeat protein 9C

Names: TPR repeat protein 9C

NCBI Reference Sequences (RefSeq)

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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)

NM_001318812.2 → NP_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

Consensus CDS

CCDS8033.1

UniProtKB/Swiss-Prot

Q8N5M4, Q8WYY7

UniProtKB/TrEMBL

E9PKV8

Related

ENSP00000435282.1, ENST00000530625.5

Conserved Domains (3) summary

TIGR00990
Location:2 → 127

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

TIGR02917
Location:82 → 152

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:8 → 36

TPR; TPR repeat [structural motif]
NM_001318813.2 → NP_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

Consensus CDS

CCDS8033.1

UniProtKB/Swiss-Prot

Q8N5M4, Q8WYY7

UniProtKB/TrEMBL

E9PKV8

Related

ENSP00000434340.1, ENST00000532583.1

Conserved Domains (3) summary

TIGR00990
Location:2 → 127

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

TIGR02917
Location:82 → 152

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:8 → 36

TPR; TPR repeat [structural motif]
NM_001318814.2 → NP_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

TIGR02917
Location:5 → 68

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:23 → 53

TPR; TPR repeat [structural motif]
NM_001318815.2 → NP_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

TIGR02917
Location:5 → 68

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:23 → 53

TPR; TPR repeat [structural motif]
NM_001318816.2 → NP_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

TIGR02917
Location:5 → 68

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:23 → 53

TPR; TPR repeat [structural motif]
NM_173810.4 → NP_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, Q8WYY7

UniProtKB/TrEMBL

E9PKV8

Related

ENSP00000325266.3, ENST00000316461.9

Conserved Domains (3) summary

TIGR00990
Location:2 → 127

3a0801s09; mitochondrial precursor proteins import receptor (72 kDa mitochondrial outermembrane protein) (mitochondrial import receptor for the ADP/ATP carrier) (translocase of outermembrane tom70)

TIGR02917
Location:82 → 152

PEP_TPR_lipo; putative PEP-CTERM system TPR-repeat lipoprotein

sd00006
Location:8 → 36

TPR; TPR repeat [structural motif]