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TRAPPC9 trafficking protein particle complex subunit 9 [ Homo sapiens (human) ]

Gene ID: 83696, updated on 13-May-2022

Summary

Official Symbol
TRAPPC9provided by HGNC
Official Full Name
trafficking protein particle complex subunit 9provided by HGNC
Primary source
HGNC:HGNC:30832
See related
Ensembl:ENSG00000167632 MIM:611966; AllianceGenome:HGNC:30832
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
T1; IBP; NIBP; MRT13; TRS120; IKBKBBP
Summary
This gene encodes a protein that likely plays a role in NF-kappa-B signaling. Mutations in this gene have been associated with autosomal-recessive cognitive disability. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]
Expression
Ubiquitous expression in brain (RPKM 3.1), thyroid (RPKM 2.8) and 25 other tissues See more
Orthologs
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Genomic context

See TRAPPC9 in Genome Data Viewer
Location:
8q24.3
Exon count:
32
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (139727725..140458579, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (140847842..141578742, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (140739968..141468678, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene potassium two pore domain channel subfamily K member 9 Neighboring gene Sharpr-MPRA regulatory region 3867 Neighboring gene Sharpr-MPRA regulatory region 15097 Neighboring gene Sharpr-MPRA regulatory region 11049 Neighboring gene uncharacterized LOC107986981 Neighboring gene uncharacterized LOC105375781 Neighboring gene chromosome 8 putative open reading frame 17 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene Neighboring gene paternally expressed 13 Neighboring gene uncharacterized LOC124902029 Neighboring gene uncharacterized LOC105375779 Neighboring gene Sharpr-MPRA regulatory region 993 Neighboring gene Sharpr-MPRA regulatory region 8823 Neighboring gene uncharacterized LOC105375782 Neighboring gene chromatin accessibility complex subunit 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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Intellectual disability, autosomal recessive 13
MedGen: C2750791 OMIM: 613192 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Gene-Smoking Interactions Identify Several Novel Blood Pressure Loci in the Framingham Heart Study.
EBI GWAS Catalog
Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13).
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC4737, MGC4769, KIAA1882

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
part_of TRAPP complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of TRAPPII protein complex IC
Inferred by Curator
more info
PubMed 
located_in cytoplasm IC
Inferred by Curator
more info
PubMed 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in endoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 
is_active_in trans-Golgi network IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
trafficking protein particle complex subunit 9
Names
IKK2 binding protein
NIK and IKK-beta binding protein
NIK- and IKBKB-binding protein
TRAPP 120 kDa subunit
trafficking protein particle complex 9
tularik gene 1 protein

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.

Genomic

  1. NG_016478.3 RefSeqGene

    Range
    5001..735855
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1041

mRNA and Protein(s)

  1. NM_001160372.4NP_001153844.1  trafficking protein particle complex subunit 9 isoform b

    See identical proteins and their annotated locations for NP_001153844.1

    Status: REVIEWED

    Source sequence(s)
    AB067469, AC007869, AC040978, AC091022, DA228705, DA778234, R49592
    Consensus CDS
    CCDS55278.1
    UniProtKB/Swiss-Prot
    Q96Q05
    Related
    ENSP00000405060.3, ENST00000438773.4
    Conserved Domains (1) summary
    pfam08626
    Location:141100
    TRAPPC9-Trs120; Transport protein Trs120 or TRAPPC9, TRAPP II complex subunit
  2. NM_001321646.2NP_001308575.1  trafficking protein particle complex subunit 9 isoform c

    Status: REVIEWED

    Source sequence(s)
    AC007869, AC040978, BC006206, DA228705, DA778234, R49592
    UniProtKB/Swiss-Prot
    Q96Q05
    Related
    ENSP00000430116.1, ENST00000520857.5
    Conserved Domains (1) summary
    pfam08626
    Location:141091
    TRAPPC9-Trs120; Transport protein Trs120 or TRAPPC9, TRAPP II complex subunit
  3. NM_001374682.1NP_001361611.1  trafficking protein particle complex subunit 9 isoform d

    Status: REVIEWED

    Source sequence(s)
    AC007869, AC021744, AC040978, AC091022, AC104244
    Conserved Domains (1) summary
    pfam08626
    Location:141107
    TRAPPC9-Trs120; Transport protein Trs120 or TRAPPC9, TRAPP II complex subunit
  4. NM_001374683.1NP_001361612.1  trafficking protein particle complex subunit 9 isoform e

    Status: REVIEWED

    Source sequence(s)
    AC007869, AC021744, AC040978, AC091022, AC104244
    Conserved Domains (1) summary
    pfam08626
    Location:141063
    TRAPPC9-Trs120; Transport protein Trs120 or TRAPPC9, TRAPP II complex subunit
  5. NM_001374684.1NP_001361613.1  trafficking protein particle complex subunit 9 isoform f

    Status: REVIEWED

    Source sequence(s)
    AC007869, AC021744, AC040978, AC091022, AC104244
    Conserved Domains (1) summary
    pfam08626
    Location:141052
    TRAPPC9-Trs120; Transport protein Trs120 or TRAPPC9, TRAPP II complex subunit
  6. NM_031466.8NP_113654.5  trafficking protein particle complex subunit 9 isoform b

    Status: REVIEWED

    Source sequence(s)
    AC007869, AC021744, AC040978, AC091022, AC104244
    Consensus CDS
    CCDS34946.1
    Related
    ENSP00000498020.1, ENST00000648948.2
    Conserved Domains (1) summary
    pfam08626
    Location:141100
    TRAPPC9-Trs120; Transport protein Trs120 or TRAPPC9, TRAPP II complex subunit

RNA

  1. NR_164662.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC007869, AC021636, AC021744, AC040978, AC091022, AC104244

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    139727725..140458579 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517326.3XP_011515628.1  trafficking protein particle complex subunit 9 isoform X1

    Conserved Domains (1) summary
    pfam08626
    Location:1121189
    TRAPPC9-Trs120; Transport protein Trs120 or TRAPPC9, TRAPP II complex subunit
  2. XM_017013894.3XP_016869383.1  trafficking protein particle complex subunit 9 isoform X10

  3. XM_011517330.3XP_011515632.1  trafficking protein particle complex subunit 9 isoform X11

    Conserved Domains (1) summary
    pfam08626
    Location:16583
    TRAPPC9-Trs120; Transport protein Trs120 or TRAPPC9, TRAPP II complex subunit
  4. XM_047422295.1XP_047278251.1  trafficking protein particle complex subunit 9 isoform X4

  5. XM_047422294.1XP_047278250.1  trafficking protein particle complex subunit 9 isoform X3

  6. XM_011517328.3XP_011515630.1  trafficking protein particle complex subunit 9 isoform X2

    Conserved Domains (1) summary
    pfam08626
    Location:1121094
    TRAPPC9-Trs120; Transport protein Trs120 or TRAPPC9, TRAPP II complex subunit
  7. XM_047422297.1XP_047278253.1  trafficking protein particle complex subunit 9 isoform X6

  8. XM_047422296.1XP_047278252.1  trafficking protein particle complex subunit 9 isoform X5

  9. XM_047422298.1XP_047278254.1  trafficking protein particle complex subunit 9 isoform X8

  10. XM_017013893.2XP_016869382.1  trafficking protein particle complex subunit 9 isoform X7

  11. XM_047422299.1XP_047278255.1  trafficking protein particle complex subunit 9 isoform X9

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    140847842..141578742 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)