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Entry version 127 (26 Feb 2020)
Sequence version 2 (06 Feb 2007)
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Protein

Protein FAM111A

Gene

FAM111A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Chromatin-associated protein required for PCNA loading on replication sites. Promotes S-phase entry and DNA synthesis (PubMed:24561620). May directly function at replication forks, explaining why Simian virus 40 (SV40) interacts with FAM111A to overcome host range restriction (PubMed:23093934).2 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processAntiviral defense, DNA replication, Host-virus interaction

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein FAM111A
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:FAM111A
Synonyms:KIAA1895
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24725 FAM111A

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
615292 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q96PZ2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Kenny-Caffey syndrome 2 (KCS2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by impaired skeletal development with small and dense bones, short stature, and primary hypoparathyroidism with hypocalcemia. Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia, and frontal bossing with a triangular face.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_069515511Y → H in KCS2. 1 PublicationCorresponds to variant dbSNP:rs587777012EnsemblClinVar.1
Natural variantiVAR_069518569R → H in KCS2. 3 PublicationsCorresponds to variant dbSNP:rs587777011EnsemblClinVar.1
Gracile bone dysplasia (GCLEB)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA perinatally lethal condition characterized by narrowing of the medullary cavity of the long bones and of the skull, gracile bones with thin diaphyses, premature closure of basal cranial sutures, and microphthalmia. Most affected individuals who survive beyond the perinatal period develop hypocalcemia with low parathyroid hormone levels.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069513338T → A in GCLEB. 1 PublicationCorresponds to variant dbSNP:rs587777014EnsemblClinVar.1
Natural variantiVAR_069514342Missing in GCLEB. 1 Publication1
Natural variantiVAR_069516527P → T in GCLEB. 1 PublicationCorresponds to variant dbSNP:rs587777015EnsemblClinVar.1
Natural variantiVAR_069517528D → G in GCLEB. 1 PublicationCorresponds to variant dbSNP:rs587777013EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi24 – 25YF → AA in PIPmt; affects subcellular localization. Impaired PCNA stability and chromatin binding. 1 Publication2

Keywords - Diseasei

Disease mutation, Dwarfism

Organism-specific databases

DisGeNET

More...
DisGeNETi
63901

MalaCards human disease database

More...
MalaCardsi
FAM111A
MIMi127000 phenotype
602361 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000166801

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
93325 Autosomal dominant Kenny-Caffey syndrome
2763 Osteocraniostenosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA143485468

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q96PZ2 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FAM111A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
125991848

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002744071 – 611Protein FAM111AAdd BLAST611

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki20Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei26PhosphoserineCombined sources1
Cross-linki30Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Cross-linki65Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q96PZ2

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q96PZ2

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q96PZ2

MaxQB - The MaxQuant DataBase

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MaxQBi
Q96PZ2

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q96PZ2

PeptideAtlas

More...
PeptideAtlasi
Q96PZ2

PRoteomics IDEntifications database

More...
PRIDEi
Q96PZ2

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
77794

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q96PZ2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q96PZ2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Regulated in a cell cycle dependent manner with the lowest expression during G0 or the quiescent phase and with peak expression during G2/M phase (at protein level).1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000166801 Expressed in prostate gland and 206 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q96PZ2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q96PZ2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA039529
HPA040176

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with PCNA; then interaction is direct.

Interacts with SV40 virus large T antigen and this interaction is required for efficient viral replication and sustained viral gene expression in restrictive cell types.

1 Publication

(Microbial infection) Interacts with SV40 virus large T antigen and this interaction is required for efficient viral replication and sustained viral gene expression in restrictive cell types.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121979, 10 interactors

Protein interaction database and analysis system

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IntActi
Q96PZ2, 8 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000434435

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q96PZ2 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni336 – 611Interaction with SV40 large T antigenAdd BLAST276

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi16 – 28PIP-boxAdd BLAST13

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The PIP-box mediates the interaction with PCNA.1 Publication

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the FAM111 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IH7H Eukaryota
ENOG410YPWU LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000005182

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_022719_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q96PZ2

Identification of Orthologs from Complete Genome Data

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OMAi
CFPESCH

Database of Orthologous Groups

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OrthoDBi
470902at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q96PZ2

TreeFam database of animal gene trees

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TreeFami
TF332538

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR009003 Peptidase_S1_PA

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50494 SSF50494, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

Q96PZ2-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSCKKQRSRK HSVNEKCNMK IEHYFSPVSK EQQNNCSTSL MRMESRGDPR
60 70 80 90 100
ATTNTQAQRF HSPKKNPEDQ TMPQNRTIYV TLKVNHRRNQ DMKLKLTHSE
110 120 130 140 150
NSSLYMALNT LQAVRKEIET HQGQEMLVRG TEGIKEYINL GMPLSCFPEG
160 170 180 190 200
GQVVITFSQS KSKQKEDNHI FGRQDKASTE CVKFYIHAIG IGKCKRRIVK
210 220 230 240 250
CGKLHKKGRK LCVYAFKGET IKDALCKDGR FLSFLENDDW KLIENNDTIL
260 270 280 290 300
ESTQPVDELE GRYFQVEVEK RMVPSAAASQ NPESEKRNTC VLREQIVAQY
310 320 330 340 350
PSLKRESEKI IENFKKKMKV KNGETLFELH RTTFGKVTKN SSSIKVVKLL
360 370 380 390 400
VRLSDSVGYL FWDSATTGYA TCFVFKGLFI LTCRHVIDSI VGDGIEPSKW
410 420 430 440 450
ATIIGQCVRV TFGYEELKDK ETNYFFVEPW FEIHNEELDY AVLKLKENGQ
460 470 480 490 500
QVPMELYNGI TPVPLSGLIH IIGHPYGEKK QIDACAVIPQ GQRAKKCQER
510 520 530 540 550
VQSKKAESPE YVHMYTQRSF QKIVHNPDVI TYDTEFFFGA SGSPVFDSKG
560 570 580 590 600
SLVAMHAAGF AYTYQNETRS IIEFGSTMES ILLDIKQRHK PWYEEVFVNQ
610
QDVEMMSDED L
Length:611
Mass (Da):70,196
Last modified:February 6, 2007 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i97425E4198B809EA
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PNQ0E9PNQ0_HUMAN
Protein FAM111A
FAM111A
96Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PR18E9PR18_HUMAN
Protein FAM111A
FAM111A
183Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAB15486 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB67788 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti97T → S in AAH71759 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_069513338T → A in GCLEB. 1 PublicationCorresponds to variant dbSNP:rs587777014EnsemblClinVar.1
Natural variantiVAR_069514342Missing in GCLEB. 1 Publication1
Natural variantiVAR_069515511Y → H in KCS2. 1 PublicationCorresponds to variant dbSNP:rs587777012EnsemblClinVar.1
Natural variantiVAR_069516527P → T in GCLEB. 1 PublicationCorresponds to variant dbSNP:rs587777015EnsemblClinVar.1
Natural variantiVAR_069517528D → G in GCLEB. 1 PublicationCorresponds to variant dbSNP:rs587777013EnsemblClinVar.1
Natural variantiVAR_069518569R → H in KCS2. 3 PublicationsCorresponds to variant dbSNP:rs587777011EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AB067482 mRNA Translation: BAB67788.1 Different initiation.
AK026447 mRNA Translation: BAB15486.1 Different initiation.
AK291453 mRNA Translation: BAF84142.1
CR749358 mRNA Translation: CAH18211.1
BC013137 mRNA Translation: AAH13137.1
BC054515 mRNA Translation: AAH54515.1
BC071759 mRNA Translation: AAH71759.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7973.1

NCBI Reference Sequences

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RefSeqi
NP_001135991.1, NM_001142519.2
NP_001135992.1, NM_001142520.2
NP_001135993.1, NM_001142521.2
NP_001299838.1, NM_001312909.1
NP_001299839.1, NM_001312910.1
NP_001299840.1, NM_001312911.1
NP_071357.2, NM_022074.3
NP_942144.1, NM_198847.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000361723; ENSP00000355264; ENSG00000166801
ENST00000420244; ENSP00000406683; ENSG00000166801
ENST00000528737; ENSP00000434435; ENSG00000166801
ENST00000531147; ENSP00000431631; ENSG00000166801
ENST00000533703; ENSP00000433154; ENSG00000166801

Database of genes from NCBI RefSeq genomes

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GeneIDi
63901

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:63901

UCSC genome browser

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UCSCi
uc001nno.4 human

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB067482 mRNA Translation: BAB67788.1 Different initiation.
AK026447 mRNA Translation: BAB15486.1 Different initiation.
AK291453 mRNA Translation: BAF84142.1
CR749358 mRNA Translation: CAH18211.1
BC013137 mRNA Translation: AAH13137.1
BC054515 mRNA Translation: AAH54515.1
BC071759 mRNA Translation: AAH71759.1
CCDSiCCDS7973.1
RefSeqiNP_001135991.1, NM_001142519.2
NP_001135992.1, NM_001142520.2
NP_001135993.1, NM_001142521.2
NP_001299838.1, NM_001312909.1
NP_001299839.1, NM_001312910.1
NP_001299840.1, NM_001312911.1
NP_071357.2, NM_022074.3
NP_942144.1, NM_198847.2

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi121979, 10 interactors
IntActiQ96PZ2, 8 interactors
STRINGi9606.ENSP00000434435

PTM databases

iPTMnetiQ96PZ2
PhosphoSitePlusiQ96PZ2

Polymorphism and mutation databases

BioMutaiFAM111A
DMDMi125991848

Proteomic databases

EPDiQ96PZ2
jPOSTiQ96PZ2
MassIVEiQ96PZ2
MaxQBiQ96PZ2
PaxDbiQ96PZ2
PeptideAtlasiQ96PZ2
PRIDEiQ96PZ2
ProteomicsDBi77794

Genome annotation databases

EnsembliENST00000361723; ENSP00000355264; ENSG00000166801
ENST00000420244; ENSP00000406683; ENSG00000166801
ENST00000528737; ENSP00000434435; ENSG00000166801
ENST00000531147; ENSP00000431631; ENSG00000166801
ENST00000533703; ENSP00000433154; ENSG00000166801
GeneIDi63901
KEGGihsa:63901
UCSCiuc001nno.4 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
63901
DisGeNETi63901

GeneCards: human genes, protein and diseases

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GeneCardsi
FAM111A
HGNCiHGNC:24725 FAM111A
HPAiHPA039529
HPA040176
MalaCardsiFAM111A
MIMi127000 phenotype
602361 phenotype
615292 gene
neXtProtiNX_Q96PZ2
OpenTargetsiENSG00000166801
Orphaneti93325 Autosomal dominant Kenny-Caffey syndrome
2763 Osteocraniostenosis
PharmGKBiPA143485468

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IH7H Eukaryota
ENOG410YPWU LUCA
GeneTreeiENSGT00390000005182
HOGENOMiCLU_022719_0_0_1
InParanoidiQ96PZ2
OMAiCFPESCH
OrthoDBi470902at2759
PhylomeDBiQ96PZ2
TreeFamiTF332538

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
FAM111A human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
63901
PharosiQ96PZ2 Tbio

Protein Ontology

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PROi
PR:Q96PZ2
RNActiQ96PZ2 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000166801 Expressed in prostate gland and 206 other tissues
ExpressionAtlasiQ96PZ2 baseline and differential
GenevisibleiQ96PZ2 HS

Family and domain databases

InterProiView protein in InterPro
IPR009003 Peptidase_S1_PA
SUPFAMiSSF50494 SSF50494, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiF111A_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q96PZ2
Secondary accession number(s): A8K5Y8
, Q5RKS9, Q5XKM2, Q68DK9, Q6IPR7, Q9H5Y1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 6, 2007
Last sequence update: February 6, 2007
Last modified: February 26, 2020
This is version 127 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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