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Entry version 125 (12 Aug 2020)
Sequence version 1 (05 Jul 2004)
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Protein

Protein FAM199X

Gene

FAM199X

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

Annotation score:2 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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q6PEV8

<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 FAM199X
<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:FAM199X
Synonyms:CXorf39
<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 X

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000123575.8

Human Gene Nomenclature Database

More...
HGNCi
HGNC:25195, FAM199X

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q6PEV8

<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

Organism-specific databases

Open Targets

More...
OpenTargetsi
ENSG00000123575

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA165756587

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q6PEV8, Tdark

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FAM199X

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74749168

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002512101 – 388Protein FAM199XAdd BLAST388

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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 residuei316PhosphoserineCombined sources1
Modified residuei321PhosphoserineCombined sources1

<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>Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q6PEV8

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q6PEV8

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q6PEV8

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

More...
PaxDbi
Q6PEV8

PeptideAtlas

More...
PeptideAtlasi
Q6PEV8

PRoteomics IDEntifications database

More...
PRIDEi
Q6PEV8

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
67080 [Q6PEV8-1]
67081 [Q6PEV8-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q6PEV8

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

More...
PhosphoSitePlusi
Q6PEV8

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000123575, Expressed in brain and 224 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q6PEV8, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q6PEV8, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000123575, Low tissue specificity

<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 binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
126553, 12 interactors

Protein interaction database and analysis system

More...
IntActi
Q6PEV8, 10 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000417581

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q6PEV8, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q6PEV8

Database of comparative protein structure models

More...
ModBasei
Search...

<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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi265 – 323Ser-richAdd BLAST59

<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 FAM199 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG502QR59, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00440000033895

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_061935_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q6PEV8

Identification of Orthologs from Complete Genome Data

More...
OMAi
HRTDPLR

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q6PEV8

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029672, FAM199X_fam

The PANTHER Classification System

More...
PANTHERi
PTHR32003, PTHR32003, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15814, FAM199X, 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>Sequences (2)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 describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q6PEV8-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSDEASAITS YEKFLTPEEP FPLLGPPRGV GTCPSEEPGC LDISDFGCQL
60 70 80 90 100
SSCHRTDPLH RFHTNRWNLT SCGTSVASSE GSEELFSSVS VGDQDDCYSL
110 120 130 140 150
LDDQDFTSFD LFPEGSVCSD VSSSISTYWD WSDSEFEWQL PGSDIASGSD
160 170 180 190 200
VLSDVIPSIP SSPCLLPKKK NKHRNLDELP WSAMTNDEQV EYIEYLSRKV
210 220 230 240 250
STEMGLREQL DIIKIIDPSA QISPTDSEFI IELNCLTDEK LKQVRNYIKE
260 270 280 290 300
HSPRQRPARE AWKRSNFSCA STSGVSGASA SASSSSASMV SSASSSGSSV
310 320 330 340 350
GNSASNSSAN MSRAHSDSNL SASAAERIRD SKKRSKQRKL QQKAFRKRQL
360 370 380
KEQRQARKER LSGLFLNEEV LSLKVTEEDH EADVDVLM
Length:388
Mass (Da):42,801
Last modified:July 5, 2004 - v1
<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:iF08D56A0D5C60B21
GO
Isoform 2 (identifier: Q6PEV8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     290-332: Missing.

Show »
Length:345
Mass (Da):38,604
Checksum:i6524335737D348E0
GO

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_020747290 – 332Missing in isoform 2. 1 PublicationAdd BLAST43

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AL049631 Genomic DNA No translation available.
AL135959 Genomic DNA No translation available.
BC016683 mRNA Translation: AAH16683.1
BC017665 mRNA Translation: AAH17665.2
BC057847 mRNA Translation: AAH57847.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS35364.1 [Q6PEV8-1]

NCBI Reference Sequences

More...
RefSeqi
NP_997201.1, NM_207318.3 [Q6PEV8-1]
XP_005262136.1, XM_005262079.2 [Q6PEV8-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000493442; ENSP00000417581; ENSG00000123575 [Q6PEV8-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
139231

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:139231

UCSC genome browser

More...
UCSCi
uc004elw.4, human [Q6PEV8-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
AL049631 Genomic DNA No translation available.
AL135959 Genomic DNA No translation available.
BC016683 mRNA Translation: AAH16683.1
BC017665 mRNA Translation: AAH17665.2
BC057847 mRNA Translation: AAH57847.1
CCDSiCCDS35364.1 [Q6PEV8-1]
RefSeqiNP_997201.1, NM_207318.3 [Q6PEV8-1]
XP_005262136.1, XM_005262079.2 [Q6PEV8-2]

3D structure databases

SMRiQ6PEV8
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi126553, 12 interactors
IntActiQ6PEV8, 10 interactors
STRINGi9606.ENSP00000417581

PTM databases

iPTMnetiQ6PEV8
PhosphoSitePlusiQ6PEV8

Polymorphism and mutation databases

BioMutaiFAM199X
DMDMi74749168

Proteomic databases

jPOSTiQ6PEV8
MassIVEiQ6PEV8
MaxQBiQ6PEV8
PaxDbiQ6PEV8
PeptideAtlasiQ6PEV8
PRIDEiQ6PEV8
ProteomicsDBi67080 [Q6PEV8-1]
67081 [Q6PEV8-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
512, 13 antibodies

Genome annotation databases

EnsembliENST00000493442; ENSP00000417581; ENSG00000123575 [Q6PEV8-1]
GeneIDi139231
KEGGihsa:139231
UCSCiuc004elw.4, human [Q6PEV8-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
139231
EuPathDBiHostDB:ENSG00000123575.8

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FAM199X
HGNCiHGNC:25195, FAM199X
HPAiENSG00000123575, Low tissue specificity
neXtProtiNX_Q6PEV8
OpenTargetsiENSG00000123575
PharmGKBiPA165756587

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG502QR59, Eukaryota
GeneTreeiENSGT00440000033895
HOGENOMiCLU_061935_0_0_1
InParanoidiQ6PEV8
OMAiHRTDPLR
PhylomeDBiQ6PEV8

Enzyme and pathway databases

PathwayCommonsiQ6PEV8

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
139231, 3 hits in 504 CRISPR screens

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

More...
ChiTaRSi
FAM199X, human

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

More...
GenomeRNAii
139231
PharosiQ6PEV8, Tdark

Protein Ontology

More...
PROi
PR:Q6PEV8
RNActiQ6PEV8, protein

Gene expression databases

BgeeiENSG00000123575, Expressed in brain and 224 other tissues
ExpressionAtlasiQ6PEV8, baseline and differential
GenevisibleiQ6PEV8, HS

Family and domain databases

InterProiView protein in InterPro
IPR029672, FAM199X_fam
PANTHERiPTHR32003, PTHR32003, 1 hit
PfamiView protein in Pfam
PF15814, FAM199X, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<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 nameiF199X_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: Q6PEV8
Secondary accession number(s): Q8WVP6, Q96AV3
<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: October 3, 2006
Last sequence update: July 5, 2004
Last modified: August 12, 2020
This is version 125 of the entry and version 1 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 X
    Human chromosome X: entries, gene names and cross-references to MIM
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