Format

Send to:

Choose Destination

FAM111A family with sequence similarity 111 member A [ Homo sapiens (human) ]

Gene ID: 63901, updated on 20-Dec-2019

Summary

Official Symbol
FAM111Aprovided by HGNC
Official Full Name
family with sequence similarity 111 member Aprovided by HGNC
Primary source
HGNC:HGNC:24725
See related
Ensembl:ENSG00000166801 MIM:615292
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
KCS2; GCLEB
Summary
The protein encoded by this gene is cell-cycle regulated, and has nuclear localization. The C-terminal half of the protein shares homology with trypsin-like peptidases and it contains a PCNA-interacting peptide (PIP) box, that is necessary for its co-localization with proliferating cell nuclear antigen (PCNA). Reduced expression of this gene resulted in DNA replication defects, consistent with the demonstrated role for this gene in Simian Virus 40 (SV40) viral replication. Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS, also known as Gracile Bone Dysplasia), both characterized by short stature, hypoparathyroidism, bone development abnormalities, and hypocalcemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
Expression
Ubiquitous expression in spleen (RPKM 18.4), lymph node (RPKM 18.1) and 25 other tissues See more
Orthologs

Genomic context

See FAM111A in Genome Data Viewer
Location:
11q12.1
Exon count:
5
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (59142856..59155039)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (58910219..58922512)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 111 member B Neighboring gene FAM111A divergent transcript Neighboring gene protein kinase cAMP-dependent type II regulatory subunit beta pseudogene Neighboring gene deltex E3 ubiquitin ligase 4 Neighboring gene RNA, 7SL, cytoplasmic 42, pseudogene Neighboring gene macrophage expressed 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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22794, KIAA1895, DKFZp686A06175

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
defense response to virus IEA
Inferred from Electronic Annotation
more info
 
negative regulation of viral genome replication IMP
Inferred from Mutant Phenotype
more info
PubMed 
viral process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
chromatin IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
fibrillar center IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

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_042835.1 RefSeqGene

    Range
    5111..17294
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142519.3NP_001135991.1  protein FAM111A

    See identical proteins and their annotated locations for NP_001135991.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 6. All variants (1-8) encode the same protein.
    Source sequence(s)
    AK025319, AK291453, DA502464, DB218857
    Consensus CDS
    CCDS7973.1
    UniProtKB/Swiss-Prot
    Q96PZ2
    UniProtKB/TrEMBL
    A0A024R4Z3
    Related
    ENSP00000434435.1, ENST00000528737.5
    Conserved Domains (1) summary
    pfam13365
    Location:370555
    Trypsin_2; Trypsin-like peptidase domain
  2. NM_001142520.3NP_001135992.1  protein FAM111A

    See identical proteins and their annotated locations for NP_001135992.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 6. All variants (1-8) encode the same protein.
    Source sequence(s)
    AP001258
    Consensus CDS
    CCDS7973.1
    UniProtKB/Swiss-Prot
    Q96PZ2
    UniProtKB/TrEMBL
    A0A024R4Z3
    Related
    ENSP00000406683.1, ENST00000420244.5
    Conserved Domains (1) summary
    pfam13365
    Location:370555
    Trypsin_2; Trypsin-like peptidase domain
  3. NM_001142521.3NP_001135993.1  protein FAM111A

    See identical proteins and their annotated locations for NP_001135993.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 6. All variants (1-8) encode the same protein.
    Source sequence(s)
    AK025319, AK291453, CR747277, DA502464, DB218857
    Consensus CDS
    CCDS7973.1
    UniProtKB/Swiss-Prot
    Q96PZ2
    UniProtKB/TrEMBL
    A0A024R4Z3
    Conserved Domains (1) summary
    pfam13365
    Location:370555
    Trypsin_2; Trypsin-like peptidase domain
  4. NM_001312909.2NP_001299838.1  protein FAM111A

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) represents the longest transcript. All variants (1-8) encode the same protein.
    Source sequence(s)
    AK025319, AK291453, DA326596, DA502464, DB218857, DB234701
    Consensus CDS
    CCDS7973.1
    UniProtKB/Swiss-Prot
    Q96PZ2
    UniProtKB/TrEMBL
    A0A024R4Z3
    Conserved Domains (1) summary
    pfam13365
    Location:370555
    Trypsin_2; Trypsin-like peptidase domain
  5. NM_001312910.2NP_001299839.1  protein FAM111A

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR compared to variant 6. All variants (1-8) encode the same protein.
    Source sequence(s)
    AK025319, AK291453, BQ948815, DA326596
    Consensus CDS
    CCDS7973.1
    UniProtKB/Swiss-Prot
    Q96PZ2
    UniProtKB/TrEMBL
    A0A024R4Z3
    Conserved Domains (1) summary
    pfam13365
    Location:370555
    Trypsin_2; Trypsin-like peptidase domain
  6. NM_001312911.2NP_001299840.1  protein FAM111A

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) differs in the 5' UTR compared to variant 6. All variants (1-8) encode the same protein.
    Source sequence(s)
    AK025319, AK291453, BQ420366
    Consensus CDS
    CCDS7973.1
    UniProtKB/Swiss-Prot
    Q96PZ2
    UniProtKB/TrEMBL
    A0A024R4Z3
    Conserved Domains (1) summary
    pfam13365
    Location:370555
    Trypsin_2; Trypsin-like peptidase domain
  7. NM_001369457.1NP_001356386.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
    Related
    ENSP00000431631.1, ENST00000531147.1
    Conserved Domains (1) summary
    pfam13365
    Location:370555
    Trypsin_2; Trypsin-like peptidase domain
  8. NM_001374804.1NP_001361733.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AK092237, AK092953, BC013137, CN288982, CR749358, DA386492
  9. NM_001374848.1NP_001361777.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  10. NM_001374849.1NP_001361778.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  11. NM_001374850.1NP_001361779.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  12. NM_001374851.1NP_001361780.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  13. NM_001374852.1NP_001361781.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  14. NM_001374853.1NP_001361782.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  15. NM_001374854.1NP_001361783.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  16. NM_001374855.1NP_001361784.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  17. NM_001374856.1NP_001361785.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  18. NM_001374857.1NP_001361786.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  19. NM_001374858.1NP_001361787.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  20. NM_001374859.1NP_001361788.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  21. NM_001374860.1NP_001361789.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  22. NM_001374861.1NP_001361790.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  23. NM_001374862.1NP_001361791.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  24. NM_001374863.1NP_001361792.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  25. NM_001374864.1NP_001361793.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  26. NM_001374865.1NP_001361794.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  27. NM_001374866.1NP_001361795.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  28. NM_001374867.1NP_001361796.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  29. NM_001374868.1NP_001361797.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  30. NM_001374869.1NP_001361798.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  31. NM_001374870.1NP_001361799.1  protein FAM111A

    Status: REVIEWED

    Source sequence(s)
    AP001258
  32. NM_022074.4NP_071357.2  protein FAM111A

    See identical proteins and their annotated locations for NP_071357.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 6. All variants (1-8) encode the same protein.
    Source sequence(s)
    AK025319, AK291453, DA502464
    Consensus CDS
    CCDS7973.1
    UniProtKB/Swiss-Prot
    Q96PZ2
    UniProtKB/TrEMBL
    A0A024R4Z3
    Related
    ENSP00000355264.3, ENST00000361723.7
    Conserved Domains (1) summary
    pfam13365
    Location:370555
    Trypsin_2; Trypsin-like peptidase domain
  33. NM_198847.3NP_942144.1  protein FAM111A

    See identical proteins and their annotated locations for NP_942144.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 6. All variants (1-8) encode the same protein.
    Source sequence(s)
    AK025319, AK291453, DA502464, DB218857
    Consensus CDS
    CCDS7973.1
    UniProtKB/Swiss-Prot
    Q96PZ2
    UniProtKB/TrEMBL
    A0A024R4Z3
    Related
    ENSP00000433154.1, ENST00000533703.1
    Conserved Domains (1) summary
    pfam13365
    Location:370555
    Trypsin_2; Trypsin-like peptidase domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    59142856..59155039
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001369455.1: Suppressed sequence

    Description
    NM_001369455.1: This RefSeq was removed because it appears to be partial at the 5'' end.
  2. NM_001369456.1: Suppressed sequence

    Description
    NM_001369456.1: This RefSeq was removed because it appears to be partial at the 5'' end.
Support Center