Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Neurite extension and migration factor

Gene

NEXMIF

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

Annotation score:4 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

Involved in neurite outgrowth by regulating cell-cell adhesion via the N-cadherin signaling pathway. May act by regulating expression of protein-coding genes, such as N-cadherins and integrin beta-1 (ITGB1).By similarity

<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

Molecular functionDevelopmental protein
Biological processNeurogenesis, Transcription, Transcription regulation

<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_and_taxonomy_section">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:
Neurite extension and migration factorCurated
Alternative name(s):
XLMR protein related to neurite extension1 Publication
Short name:
XPN1 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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:NEXMIFImported
Synonyms:KIAA2022Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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

More...
EuPathDBi
HostDB:ENSG00000050030.13

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29433 NEXMIF

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
300524 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5QGS0

<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; 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

Mental retardation, X-linked 98 (MRX98)6 Publications
The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving NEXMIF is found in patients with severe mental retardation. Pericentric inversion inv(X)(p22.3;q13.2) with P2RY8 leading to inactivation of NEXMIF (PubMed:15466006). MRX98 transmission pattern is consistent with X-linked recessive inheritance (PubMed:23615299). In some cases, de novo heterozygous loss-of-function mutations have been found in affected females, while some female carriers are asymptomatic (PubMed:26576034, PubMed:27358180, PubMed:27568816). The female phenotype partially overlaps with the reported male phenotype but includes epilepsy as a relevant feature. The variability of disease manifestation in female carriers is probably due to skewed X inactivation with differential expression in the brain (PubMed:26576034, PubMed:27358180, PubMed:27568816).5 Publications
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRX98 patients show delayed psychomotor development, absent or poor speech development, and postnatal growth retardation, often with microcephaly. Some patients show autistic behavioral features, such as stereotypic hand movements and repetitive behaviors. Additional, more variable features include spasticity, axial hypotonia, seizures, drooling, gastroesophageal reflux, and lack of sphincter control.
See also OMIM:300912
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_079039146 – 1516Missing in MRX98; de novo dominant mutation found in females; disease phenotype includes epilepsy as a feature. 2 PublicationsAdd BLAST1371
Natural variantiVAR_079040218 – 1516Missing in MRX98; de novo dominant mutation found in females; disease phenotype includes epilepsy as a feature. 1 PublicationAdd BLAST1299
Natural variantiVAR_079041318 – 1516Missing in MRX98; de novo dominant mutation found in females; disease phenotype includes epilepsy as a feature. 2 PublicationsAdd BLAST1199
Natural variantiVAR_079042322 – 1516Missing in MRX98; de novo dominant mutation found in females; disease phenotype includes epilepsy as a feature. 3 PublicationsAdd BLAST1195
Natural variantiVAR_079043481 – 1516Missing in MRX98; de novo dominant mutation found in females; disease phenotype includes epilepsy as a feature. 2 PublicationsAdd BLAST1036
Natural variantiVAR_079044628 – 1516Missing in MRX98; de novo dominant mutation found in females; disease phenotype includes epilepsy as a feature. 2 PublicationsAdd BLAST889
Natural variantiVAR_079045705 – 1516Missing in MRX98. 1 PublicationAdd BLAST812

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
340533

MalaCards human disease database

More...
MalaCardsi
NEXMIF
MIMi300912 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000050030

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

More...
Orphaneti
85277 X-linked intellectual disability, Cantagrel type

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA162393214

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KIAA2022

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74743104

<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_00002578441 – 1516Neurite extension and migration factorAdd BLAST1516

Proteomic databases

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

More...
PaxDbi
Q5QGS0

PeptideAtlas

More...
PeptideAtlasi
Q5QGS0

PRoteomics IDEntifications database

More...
PRIDEi
Q5QGS0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
63609

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5QGS0

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

More...
PhosphoSitePlusi
Q5QGS0

<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 provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in fetal and adult brain, predominantly in the cerebral cortex and the cerebellum. Also expressed in other tissues but to a lesser extent.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000050030 Expressed in 148 organ(s), highest expression level in neocortex

CleanEx database of gene expression profiles

More...
CleanExi
HS_KIAA2022

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5QGS0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5QGS0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA000407

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
131068, 2 interactors

Protein interaction database and analysis system

More...
IntActi
Q5QGS0, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000055682

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
Q5QGS0

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IFSY Eukaryota
ENOG410XSAZ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000159746

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000113185

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG081844

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5QGS0

Identification of Orthologs from Complete Genome Data

More...
OMAi
REFEEPS

Database of Orthologous Groups

More...
OrthoDBi
EOG091G00LU

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5QGS0

TreeFam database of animal gene trees

More...
TreeFami
TF332248

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR032757 DUF4683

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15735 DUF4683, 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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

Q5QGS0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDNQQDKAIV ASANGENTLI NGVKENDSED QDVAMKSFAA LEAAAPIQPT
60 70 80 90 100
PVAQKETLMY PRGLLPLPSK KPCMQSPPSP LGLIEAPEHA ANSASVNAIS
110 120 130 140 150
LTSGIAKGLN TWSLPNECEK APFAIMEPAG MSALNGDCLM QPSRTCLGCF
160 170 180 190 200
MESKDAVDPE PGISLKVGDL NRDYETCAVS DIGIQCINAG ENMKYGEQLL
210 220 230 240 250
SDQLLGFPLH KSRAGDRRET EKPDIDLEDP AQKSYYEALL LDKCNTEEAL
260 270 280 290 300
LANSNQDWGY FETFISESKI ELLDLCSKNE LSVNLFSEED VDNYMFDDDE
310 320 330 340 350
STLGSDVCSL KIRYESFQDN VRDKTTLLMQ EDAQFNFFPS VFTTCPKRES
360 370 380 390 400
KSGALKQSSD FSQFKVPDVS IIWGEEDKNL DKKKGKEEGQ EDKGVEKKDG
410 420 430 440 450
KDNGEKPALN KPCSGTEVEQ LKNPKQGHLA NSLETSGSFS DDSSFIEISY
460 470 480 490 500
DAMGEIKDCS RYMARDTNSG SSSSQQNYGL RAKRKVRYSE DYLYDVDSLE
510 520 530 540 550
GEKVNERKEW LPVGSKEEDD DEWCPKKRRK VTRKEPPVII KYIIINRFKG
560 570 580 590 600
EKNMLVKLGK VDASETTVNL SENQLNKYAK LAPLKGFWQK KKKQRNTNTD
610 620 630 640 650
SIKTPFSQKQ SFEPGSFEVS FLPPARKRKS KLGNRHRIQR IPSIEISASS
660 670 680 690 700
KQISLCNDQR HASNHKEDGG LKGTLKSAPL GAPSCANGSH LNDITGPDSV
710 720 730 740 750
KVKAQDTEFK GPERKVLNKI KFKSEARLKS KKVKAAGQES KPIVQMSPLL
760 770 780 790 800
ENQSSKANLK NEVIPGTSNS SRLSEFHEAK AAKSSTFLPT TCSSEMPLSS
810 820 830 840 850
ANVTTNIPVI PGGYLQTLLD ASDLSNNTSI SYFSHHSPEQ NEGSLTQTEK
860 870 880 890 900
SFVPLQPTQD CVLTSSSDSE LQQSSHNFKM ESSNYRNVWP NKATSGTQEF
910 920 930 940 950
MAEVSREIAP TQSSEFGASQ VVSMENNLTP TTYNPICLNS GGSNCNKVLY
960 970 980 990 1000
DSMQDTQLPS DDSYQLCHFN NGEICFPFQQ GPVNMDDGRL FSFDSMAPLS
1010 1020 1030 1040 1050
VSSSNYCSLS LKSCEKDGDD DITDDFLAHC SPKLVIQQSI DEIAPLKEST
1060 1070 1080 1090 1100
DLLDISNFTP DKFRHSSLSE MSPPDTPSLS PQITRCESMK TLGTLKGFQE
1110 1120 1130 1140 1150
GVPGPLDSVE KIKWDCSTLS RQVQMEDGFT LNNHQFQFHM FNDEDSVSLL
1160 1170 1180 1190 1200
QKNPCLSTFN DPSGQISTNN KVSKSRKKSS PSKSGAMNQS SSQKNTRKKS
1210 1220 1230 1240 1250
LKGNNKGIEK PPGKNSRQVP KSTKKGKYMA AINGEKMQIG IGRGGSQTNT
1260 1270 1280 1290 1300
ISSTGKTLAE CIQHGGPMAS MKMPSQKGLS GDWALGKESS PGWSDMSMGT
1310 1320 1330 1340 1350
NTNSLLDDDQ REFQEPSYIL SNIASGMADV QRFMMASIEP LWEPMEHHGD
1360 1370 1380 1390 1400
PNIFYSPESN SLKLKTLKIL AGTPQESKKK INSGSQGATK NHRSIKGVSK
1410 1420 1430 1440 1450
SNGKTAIGDP GRANMPGYNE DSRSTFFDKK YSNMSTLGNN GPTHKKLYRH
1460 1470 1480 1490 1500
KSSSKALRDE KCKGKHMERE QVHKDESGTA SFEKLRDSDY NLLKAETTFW
1510
VLPVFEEETR IFQKDI
Length:1,516
Mass (Da):167,551
Last modified:January 4, 2005 - 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:i8B7F6575F283F669
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
H7C2N8H7C2N8_HUMAN
Neurite extension and migration fac...
NEXMIF
118Annotation 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>
A0A2R8YEQ5A0A2R8YEQ5_HUMAN
Neurite extension and migration fac...
NEXMIF
1,486Annotation 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 BAC23118 differs from that shown. Reason: Erroneous initiation.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_079039146 – 1516Missing in MRX98; de novo dominant mutation found in females; disease phenotype includes epilepsy as a feature. 2 PublicationsAdd BLAST1371
Natural variantiVAR_079040218 – 1516Missing in MRX98; de novo dominant mutation found in females; disease phenotype includes epilepsy as a feature. 1 PublicationAdd BLAST1299
Natural variantiVAR_079041318 – 1516Missing in MRX98; de novo dominant mutation found in females; disease phenotype includes epilepsy as a feature. 2 PublicationsAdd BLAST1199
Natural variantiVAR_079042322 – 1516Missing in MRX98; de novo dominant mutation found in females; disease phenotype includes epilepsy as a feature. 3 PublicationsAdd BLAST1195
Natural variantiVAR_079043481 – 1516Missing in MRX98; de novo dominant mutation found in females; disease phenotype includes epilepsy as a feature. 2 PublicationsAdd BLAST1036
Natural variantiVAR_079044628 – 1516Missing in MRX98; de novo dominant mutation found in females; disease phenotype includes epilepsy as a feature. 2 PublicationsAdd BLAST889
Natural variantiVAR_079045705 – 1516Missing in MRX98. 1 PublicationAdd BLAST812
Natural variantiVAR_0495291112I → T. Corresponds to variant dbSNP:rs12851763Ensembl.1

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
AY563507 mRNA Translation: AAT67985.1
AB095942 mRNA Translation: BAC23118.1 Different initiation.
AL139395 Genomic DNA No translation available.
AL390035 Genomic DNA No translation available.
BC152557 mRNA Translation: AAI52558.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS35337.1

NCBI Reference Sequences

More...
RefSeqi
NP_001008537.1, NM_001008537.2

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.124128

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000055682; ENSP00000055682; ENSG00000050030
ENST00000616200; ENSP00000480284; ENSG00000050030

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
340533

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:340533

UCSC genome browser

More...
UCSCi
uc004eby.4 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

<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
AY563507 mRNA Translation: AAT67985.1
AB095942 mRNA Translation: BAC23118.1 Different initiation.
AL139395 Genomic DNA No translation available.
AL390035 Genomic DNA No translation available.
BC152557 mRNA Translation: AAI52558.1
CCDSiCCDS35337.1
RefSeqiNP_001008537.1, NM_001008537.2
UniGeneiHs.124128

3D structure databases

ProteinModelPortaliQ5QGS0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi131068, 2 interactors
IntActiQ5QGS0, 1 interactor
STRINGi9606.ENSP00000055682

PTM databases

iPTMnetiQ5QGS0
PhosphoSitePlusiQ5QGS0

Polymorphism and mutation databases

BioMutaiKIAA2022
DMDMi74743104

Proteomic databases

PaxDbiQ5QGS0
PeptideAtlasiQ5QGS0
PRIDEiQ5QGS0
ProteomicsDBi63609

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
340533
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000055682; ENSP00000055682; ENSG00000050030
ENST00000616200; ENSP00000480284; ENSG00000050030
GeneIDi340533
KEGGihsa:340533
UCSCiuc004eby.4 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
340533
DisGeNETi340533
EuPathDBiHostDB:ENSG00000050030.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
NEXMIF
HGNCiHGNC:29433 NEXMIF
HPAiHPA000407
MalaCardsiNEXMIF
MIMi300524 gene
300912 phenotype
neXtProtiNX_Q5QGS0
OpenTargetsiENSG00000050030
Orphaneti85277 X-linked intellectual disability, Cantagrel type
PharmGKBiPA162393214

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFSY Eukaryota
ENOG410XSAZ LUCA
GeneTreeiENSGT00940000159746
HOGENOMiHOG000113185
HOVERGENiHBG081844
InParanoidiQ5QGS0
OMAiREFEEPS
OrthoDBiEOG091G00LU
PhylomeDBiQ5QGS0
TreeFamiTF332248

Miscellaneous databases

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

More...
GenomeRNAii
340533

Protein Ontology

More...
PROi
PR:Q5QGS0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000050030 Expressed in 148 organ(s), highest expression level in neocortex
CleanExiHS_KIAA2022
ExpressionAtlasiQ5QGS0 baseline and differential
GenevisibleiQ5QGS0 HS

Family and domain databases

InterProiView protein in InterPro
IPR032757 DUF4683
PfamiView protein in Pfam
PF15735 DUF4683, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiNEXMI_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: Q5QGS0
Secondary accession number(s): A7YY87, Q5JUX9, Q8IVE9
<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: January 4, 2005
Last modified: December 5, 2018
This is version 117 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

We'd like to inform you that we have updated our Privacy Notice to comply with Europe’s new General Data Protection Regulation (GDPR) that applies since 25 May 2018.

Do not show this banner again