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KIAA1109 KIAA1109 [ Homo sapiens (human) ]

Gene ID: 84162, updated on 24-Nov-2020

Summary

Official Symbol
KIAA1109provided by HGNC
Official Full Name
KIAA1109provided by HGNC
Primary source
HGNC:HGNC:26953
See related
Ensembl:ENSG00000138688 MIM:611565
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
FSA; Tweek; ALKKUCS
Summary
This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]
Expression
Ubiquitous expression in ovary (RPKM 9.3), thyroid (RPKM 8.8) and 25 other tissues See more
Orthologs

Genomic context

See KIAA1109 in Genome Data Viewer
Location:
4q27
Exon count:
94
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (122152331..122362752)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (123073488..123283914)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC112268469 Neighboring gene RNA, 7SL, cytoplasmic 335, pseudogene Neighboring gene adenosine deaminase domain containing 1 Neighboring gene interleukin 2

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
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.
GeneReviews: Not available
ALKURAYA-KUCINSKAS SYNDROME
MedGen: C4693347 OMIM: 617822 GeneReviews: Not available
Compare labs
Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
GeneReviews: Not available
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
GeneReviews: Not available
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
GeneReviews: Not available
Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization.
GeneReviews: Not available
Multiple common variants for celiac disease influencing immune gene expression.
GeneReviews: Not available
Newly identified genetic risk variants for celiac disease related to the immune response.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC110967, DKFZp781P0474

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endocytic recycling IMP
Inferred from Mutant Phenotype
more info
PubMed 
endosomal transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
phagocytosis IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cell growth NAS
Non-traceable Author Statement
more info
PubMed 
regulation of epithelial cell differentiation NAS
Non-traceable Author Statement
more info
PubMed 
synaptic vesicle endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane NAS
Non-traceable Author Statement
more info
PubMed 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 
presynapse IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
transmembrane protein KIAA1109
Names
fragile site-associated protein

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.

Genomic

  1. NG_015813.2 RefSeqGene

    Range
    5001..197157
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001384125.1NP_001371054.1  transmembrane protein KIAA1109 isoform

    Status: REVIEWED

    Source sequence(s)
    AC022489, AC104658, AC127089
    Conserved Domains (1) summary
    pfam10479
    Location:44685075
    FSA_C; Fragile site-associated protein C-terminus
  2. NM_015312.4NP_056127.2  transmembrane protein KIAA1109 isoform 2

    See identical proteins and their annotated locations for NP_056127.2

    Status: REVIEWED

    Source sequence(s)
    AC104658, AC127089, DQ335469
    Consensus CDS
    CCDS43267.1
    UniProtKB/Swiss-Prot
    Q2LD37
    Related
    ENSP00000373390.3, ENST00000388738.7
    Conserved Domains (1) summary
    pfam10479
    Location:43804987
    FSA_C; Fragile site-associated protein C-terminus

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_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    122152331..122362752
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011532327.1XP_011530629.1  transmembrane protein KIAA1109 isoform X7

    Conserved Domains (1) summary
    pfam10479
    Location:44185025
    FSA_C; Fragile site-associated protein C-terminus
  2. XM_011532325.1XP_011530627.1  transmembrane protein KIAA1109 isoform X5

    Conserved Domains (1) summary
    pfam10479
    Location:44335040
    FSA_C; Fragile site-associated protein C-terminus
  3. XM_011532324.1XP_011530626.1  transmembrane protein KIAA1109 isoform X4

    Conserved Domains (1) summary
    pfam10479
    Location:44475054
    FSA_C; Fragile site-associated protein C-terminus
  4. XM_005263282.1XP_005263339.1  transmembrane protein KIAA1109 isoform X8

    Conserved Domains (1) summary
    pfam10479
    Location:44015008
    FSA_C; Fragile site-associated protein C-terminus
  5. XM_017008695.1XP_016864184.1  transmembrane protein KIAA1109 isoform X10

    Conserved Domains (1) summary
    pfam10479
    Location:43664973
    FSA_C; Fragile site-associated protein C-terminus
  6. XM_005263287.1XP_005263344.1  transmembrane protein KIAA1109 isoform X9

    See identical proteins and their annotated locations for XP_005263344.1

    UniProtKB/Swiss-Prot
    Q2LD37
    Related
    ENSP00000264501.4, ENST00000264501.8
    Conserved Domains (1) summary
    pfam10479
    Location:43804987
    FSA_C; Fragile site-associated protein C-terminus
  7. XM_017008697.1XP_016864186.1  transmembrane protein KIAA1109 isoform X12

    Conserved Domains (1) summary
    pfam10479
    Location:43454952
    FSA_C; Fragile site-associated protein C-terminus
  8. XM_011532323.1XP_011530625.1  transmembrane protein KIAA1109 isoform X3

    Conserved Domains (1) summary
    pfam10479
    Location:44515058
    FSA_C; Fragile site-associated protein C-terminus
  9. XM_017008696.1XP_016864185.1  transmembrane protein KIAA1109 isoform X11

    Conserved Domains (1) summary
    pfam10479
    Location:43494956
    FSA_C; Fragile site-associated protein C-terminus
  10. XM_011532326.1XP_011530628.1  transmembrane protein KIAA1109 isoform X6

    Conserved Domains (1) summary
    pfam10479
    Location:44255032
    FSA_C; Fragile site-associated protein C-terminus
  11. XM_011532322.1XP_011530624.1  transmembrane protein KIAA1109 isoform X2

    Conserved Domains (1) summary
    pfam10479
    Location:44675074
    FSA_C; Fragile site-associated protein C-terminus
  12. XM_006714344.1XP_006714407.1  transmembrane protein KIAA1109 isoform X17

    UniProtKB/Swiss-Prot
    Q2LD37
    Conserved Domains (1) summary
    pfam10479
    Location:43794986
    FSA_C; Fragile site-associated protein C-terminus
  13. XM_017008699.1XP_016864188.1  transmembrane protein KIAA1109 isoform X16

  14. XM_011532320.3XP_011530622.1  transmembrane protein KIAA1109 isoform X1

    See identical proteins and their annotated locations for XP_011530622.1

    Conserved Domains (1) summary
    pfam10479
    Location:44685075
    FSA_C; Fragile site-associated protein C-terminus
  15. XM_011532321.2XP_011530623.1  transmembrane protein KIAA1109 isoform X1

    See identical proteins and their annotated locations for XP_011530623.1

    Conserved Domains (1) summary
    pfam10479
    Location:44685075
    FSA_C; Fragile site-associated protein C-terminus
  16. XM_011532330.1XP_011530632.1  transmembrane protein KIAA1109 isoform X13

    Conserved Domains (1) summary
    pfam10479
    Location:38854492
    FSA_C; Fragile site-associated protein C-terminus
  17. XM_024454243.1XP_024310011.1  transmembrane protein KIAA1109 isoform X14

    Conserved Domains (1) summary
    pfam10479
    Location:38524459
    FSA_C; Fragile site-associated protein C-terminus
  18. XM_017008698.1XP_016864187.1  transmembrane protein KIAA1109 isoform X15

    Conserved Domains (1) summary
    pfam10479
    Location:35454152
    FSA_C; Fragile site-associated protein C-terminus

RNA

  1. XR_001741335.2 RNA Sequence

  2. XR_001741336.1 RNA Sequence

  3. XR_938781.1 RNA Sequence

  4. XR_938782.1 RNA Sequence

  5. XR_938783.1 RNA Sequence

  6. XR_001741337.1 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_032202.1: Suppressed sequence

    Description
    NM_032202.1: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
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