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Entry version 111 (08 May 2019)
Sequence version 2 (11 Jan 2011)
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Protein

Transmembrane protein KIAA1109

Gene

KIAA1109

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

Miscellaneous

KIAA1109 is mapped in the genomic region associated with susceptibility to celiac disease (CELIAC6).

<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

  • regulation of cell growth Source: BHF-UCL
  • regulation of epithelial cell differentiation Source: BHF-UCL
  • synaptic vesicle endocytosis Source: GO_Central

<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:
Transmembrane protein KIAA1109Curated
Alternative name(s):
Fragile site-associated protein
<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:KIAA1109
Synonyms:FSA, KIAA1371
<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 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:26953 KIAA1109

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
611565 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q2LD37

<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

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei26 – 46HelicalSequence analysisAdd BLAST21

<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 - Cellular componenti

Membrane

<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

Alkuraya-Kucinskas syndrome (ALKKUCS)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive syndrome characterized by brain atrophy and arthrogryposis. Patients present with cerebral parenchymal underdevelopment, lissencephaly, severe to mild ventriculomegaly, and cerebellar hypoplasia with brainstem dysgenesis. Most affected individuals die in utero or soon after birth. The few patients who survive have variable intellectual disability and may have seizures. Facial dysmorphism, cardiac and ophthalmologic anomalies, such as microphthalmia and cataract, are additional features.
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_080684519 – 5005Missing in ALKKUCS. 2 PublicationsAdd BLAST4487
Natural variantiVAR_080685968R → C in ALKKUCS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1051597475EnsemblClinVar.1
Natural variantiVAR_0806861329Y → C in ALKKUCS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs770791100EnsemblClinVar.1
Natural variantiVAR_0806871573M → I in ALKKUCS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs368227278Ensembl.1
Natural variantiVAR_0806881867V → M in ALKKUCS; unknown pathological significance. 1 Publication1
Natural variantiVAR_0806891958R → Q in ALKKUCS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1263871665Ensembl.1
Natural variantiVAR_0806903050P → H in ALKKUCS; unknown pathological significance. 1 Publication1
Natural variantiVAR_0806913385G → R in ALKKUCS; unknown pathological significance. 1 Publication1
Natural variantiVAR_0806924023 – 5005Missing in ALKKUCS. 1 PublicationAdd BLAST983

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
84162

MalaCards human disease database

More...
MalaCardsi
KIAA1109
MIMi617822 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000138688

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142671621

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
KIAA1109

Domain mapping of disease mutations (DMDM)

More...
DMDMi
317373370

<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_00003175551 – 5005Transmembrane protein KIAA1109Add BLAST5005

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 residuei1301PhosphoserineCombined sources1
Modified residuei1305PhosphoserineCombined sources1
Modified residuei1323PhosphoserineCombined sources1
Modified residuei1325PhosphothreonineCombined sources1
Modified residuei1355PhosphoserineCombined sources1
Modified residuei1406PhosphoserineCombined sources1
Modified residuei1805PhosphoserineBy similarity1
Modified residuei1808PhosphoserineBy similarity1
Modified residuei2601PhosphoserineBy similarity1
Modified residuei2603PhosphoserineCombined sources1
Modified residuei2755PhosphoserineCombined sources1
Modified residuei3562PhosphoserineCombined sources1
Modified residuei3653PhosphoserineBy similarity1
Modified residuei4124PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q2LD37

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q2LD37

MaxQB - The MaxQuant DataBase

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MaxQBi
Q2LD37

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

More...
PaxDbi
Q2LD37

PeptideAtlas

More...
PeptideAtlasi
Q2LD37

PRoteomics IDEntifications database

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PRIDEi
Q2LD37

ProteomicsDB human proteome resource

More...
ProteomicsDBi
61331
61332 [Q2LD37-2]
61333 [Q2LD37-4]
61334 [Q2LD37-5]
61335 [Q2LD37-6]
61336 [Q2LD37-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q2LD37

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

More...
PhosphoSitePlusi
Q2LD37

<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 testis and ovary. Weakly or not expressed in other tissues.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000138688 Expressed in 236 organ(s), highest expression level in corpus callosum

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q2LD37 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q2LD37 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA038076

<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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
CTNNB1P352222EBI-2683809,EBI-491549

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
123919, 6 interactors

Protein interaction database and analysis system

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IntActi
Q2LD37, 5 interactors

Molecular INTeraction database

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MINTi
Q2LD37

STRING: functional protein association networks

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STRINGi
9606.ENSP00000264501

<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 biasi772 – 779Poly-Ser8
Compositional biasi1154 – 1157Poly-Ser4
Compositional biasi1226 – 1233Poly-Ser8
Compositional biasi1237 – 1240Poly-Ser4
Compositional biasi1417 – 1421Poly-Lys5
Compositional biasi1544 – 1547Poly-Ser4
Compositional biasi1991 – 1994Poly-Pro4
Compositional biasi3838 – 3841Poly-Lys4
Compositional biasi4110 – 4158Ser-richAdd BLAST49

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3596 Eukaryota
ENOG410XT7P LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00640000091487

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q2LD37

Identification of Orthologs from Complete Genome Data

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OMAi
VPTTCNT

Database of Orthologous Groups

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OrthoDBi
77777at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q2LD37

TreeFam database of animal gene trees

More...
TreeFami
TF105915

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR018863 Fragile_site-assoc_C
IPR033616 KIAA1109

The PANTHER Classification System

More...
PANTHERi
PTHR31640 PTHR31640, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF10479 FSA_C, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01220 FSA_C, 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>. 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 (6+)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 describes 6 <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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q2LD37-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' 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
MDQRKNESIV PSITQLEDFL TEHNSNVVWL LVATILSCGW IIYLTYYNSR
60 70 80 90 100
NVGLILTLVL NRLYKHGYIH IGSFSFSVLS GKVMVREIYY ITEDMSIRIQ
110 120 130 140 150
DGFIIFRWWK MYNPKQKQHD PKAETRLYIT VNDFEFHVYN RSDLYGRLQE
160 170 180 190 200
LFGLEPTIIP PKKDDDKTRE IGRTRTQSKI ERVKVKTESQ DPTSSWRSLI
210 220 230 240 250
PVIKVNVSTG RLAFGNHYQP QTLCINFDDA FLTYTTKPPS SHLDQFMHIV
260 270 280 290 300
KGKLENVRVM LVPSPRYVGL QNDEPPRLMG EGFVVMQSND VDIYYYMDEP
310 320 330 340 350
GLVPEETEEN IEGEMSSEDC KLQDLPPCWG LDIVCGKGTD FNYGPWADRQ
360 370 380 390 400
RDCLWKFFFP PDYQVLKVSE IAQPGRPRQI LAFELRMNII ADATIDLLFT
410 420 430 440 450
KNRETNAVHV NVGAGSYLEI NIPMTVEENG YTPAIKGQLL HVDATTSMQY
460 470 480 490 500
RTLLEAEMLA FHINASYPRI WNMPQTWQCE LEVYKATYHF IFAQKNFFTD
510 520 530 540 550
LIQDWSSDSP PDIFSFVPYT WNFKIMFHQF EMIWAANQHN WIDCSTKQQE
560 570 580 590 600
NVYLAACGET LNIDFSLPFT DFVPATCNTK FSLRGEDVDL HLFLPDCHPS
610 620 630 640 650
KYSLFMLVKN CHPNKMIHDT GIPAECQSGQ KTVKPKWRNV TQEKSGWVEC
660 670 680 690 700
WTVPSVMLTI DYTWHPIYPQ KADEQLKQSL SEMEETMLSV LRPSQKTSDR
710 720 730 740 750
VVSSPSTSSR PPIDPSELPP DKLHVEMELS PDSQITLYGP LLNAFLCIKE
760 770 780 790 800
NYFGEDDMYM DFEEVISSPV LSLSTSSSSG WTAVGMENDK KENEGSAKSI
810 820 830 840 850
HPLALRPWDI TVLVNLYKVH GRLPVHGTTD GPECPTAFLE RLCFEMKKGF
860 870 880 890 900
RETMLQLILS PLNVFVSDNY QQRPPVDEVL REGHINLSGL QLRAHAMFSA
910 920 930 940 950
EGLPLGSDSL EYAWLIDVQA GSLTAKVTAP QLACLLEWGQ TFVFHVVCRE
960 970 980 990 1000
YELERPKSVI ICQHGIDRRF CESKLSCIPG PCPTSDDLKY TMIRLAVDGA
1010 1020 1030 1040 1050
DIYIVEHGCA TNIKMGAIRV ANCNLHNQSV GEGISAAIQD FQVRQYIEQL
1060 1070 1080 1090 1100
NNCRIGLQPA VLRRAYWLEA GSANLGLITV DIALAADHHS KHEAQRHFLE
1110 1120 1130 1140 1150
THDARTKRLW FLWPDDILKN KRCRNKCGCL GGCRFFGGTV TGLDFFKLEE
1160 1170 1180 1190 1200
LTPSSSSAFS STSAESDMYY GQSLLQPGEW IITKEIPKII DGNVNGMKRK
1210 1220 1230 1240 1250
EWENKSVGIE VERKTQHLSL QVPLRSHSSS SSSEENSSSS AAQPLLAGEK
1260 1270 1280 1290 1300
ESPSSVADDH LVQKEFLHGT KRDDGQASIP TEISGNSPVS PNTQDKSVGQ
1310 1320 1330 1340 1350
SPLRSPLKRQ ASVCSTRLGS TKSLTAAFYG DKQPVTVGVQ FSSDVSRSDE
1360 1370 1380 1390 1400
NVLDSPKQRR SFGSFPYTPS ADSNSFHQYR SMDSSMSMAD SEAYFSAAEE
1410 1420 1430 1440 1450
FEPISSDEGP GTYPGRKKKK KQTQQIDYSR GSIYHSVEGP LTGHGESIQD
1460 1470 1480 1490 1500
SRTLPFKTHP SQASFVSALG GEDDVIEHLY IVEGEKTVES EQITPQQPVM
1510 1520 1530 1540 1550
NCYQTYLTQF QVINWSVKHP TNKRTSKSSL HRPLDLDTPT SEESSSSFEQ
1560 1570 1580 1590 1600
LSVPTFKVIK QGLTANSLLD RGMQLSGSTS NTPYTPLEKK LADNTDDETL
1610 1620 1630 1640 1650
TEEWTLDQPV SQTRTTAIVE VKGTVDIVLT PLVAEALDRY IEAMVHCAST
1660 1670 1680 1690 1700
RHPAAIVDDL HAKVLREAVQ NSKTTFSENL SSKQDIRGTK TEQSTIGTTN
1710 1720 1730 1740 1750
QGQAQTNLTM KQDNVTIKGL QTNVSIPKVN LCLLQASVEE SPTTAPSRSV
1760 1770 1780 1790 1800
THVSLVALCF DRIATQVRMN RGVVEETSNN AEPGRTSNFD RYVHATKMQP
1810 1820 1830 1840 1850
QSSGSLRSNA GAEKGKEIAA KLNIHRVHGQ LRGLDTTDIG TCAITAIPFE
1860 1870 1880 1890 1900
KSKVLFTLEE LDEFTFVDET DQQAVPDVTR IGPSQEKWGW IMFECGLENL
1910 1920 1930 1940 1950
TIKGGRQSGA VLYNSFGIMG KASDTERGGV LTSNNSSDSP TGSGYNTDVS
1960 1970 1980 1990 2000
DDNLPCDRTS PSSDLNGNSV SDEQDEGVES DDLKKDLPLM PPPPDSCSMK
2010 2020 2030 2040 2050
LTIKEIWFSF AAPTNVRSHT HAFSRQLNLL STATPAVGAW LVPIDQLKSS
2060 2070 2080 2090 2100
LNKLETEGTL RICAVMGCIM TEALENKSVH FPLRSKYNRL TKVARFLQEN
2110 2120 2130 2140 2150
PSCLLCNILH HYLHQANYSI IDDATMSDGL PALVTLKKGL VALARQWMKF
2160 2170 2180 2190 2200
IVVTPAFKGV SLHRPAQPLK PQIAMDHEHE DGLGLDNGGG LQSDTSADGA
2210 2220 2230 2240 2250
EFEFDAATVS EHTMLLEGTA NRPPPGSSGP VTGAEIMRKL SKTHTHSDSA
2260 2270 2280 2290 2300
LKIKGIHPYH SLSYTSGDTA TDSPVHVGRA GMPVKDSPRK ESLLSYLTGS
2310 2320 2330 2340 2350
FPSLHNLLEG TPQRSSAAVK SSSLTRTGNT VATDMLSEHP LLSEPSSVSF
2360 2370 2380 2390 2400
YNWMSNAVGN RGSVLQESPV TKSGHNSLPT GVAPNLPTIP SASDFNTVLS
2410 2420 2430 2440 2450
SDQNTLDGTH SQHSTSQDDV AGVEEANQGF PAVQLADAQV VFKPLLSHTG
2460 2470 2480 2490 2500
IQSQDTMPFC YRMYFGEHLS FSGTLDCLRA DIVDSDTAKE RKGKRARRQG
2510 2520 2530 2540 2550
HVNLPPLEFK PALMLGTFSI SAVVMEKSVC TPQNSTSALS FHDLSKRYYN
2560 2570 2580 2590 2600
TFHCNFTISC QSISQHVDMA LVRLIHQFST MIDDIKATQT DIKLSRYTAG
2610 2620 2630 2640 2650
SASPTPTFKT RKHRDFRSSD FSRSSRGSLN GGNRVNNAKN KRTNNENNKK
2660 2670 2680 2690 2700
ESRNKNSLGR SERRTSKVSR KGSKDVVDHM TIHMDDSDSI TVSEQSEPSA
2710 2720 2730 2740 2750
ECWQNMYKLL NFYSLISDPT GILEKSSETF GPAGVRSPTE PTCKVVFENE
2760 2770 2780 2790 2800
QDNSSLTKTQ RKRSLVTSEP QHVTLIVFGI GMVNRTHLEA DIGGLTMESE
2810 2820 2830 2840 2850
LKRIHGSFTL KEKMKDVLHQ KMTETCATAH IGGVNIVLLE GITPNIQLED
2860 2870 2880 2890 2900
FPTSPTSTAK QEFLTVVKCS IAKSQALYSA QRGLKTNNAA VFKVGAISIN
2910 2920 2930 2940 2950
IPQHPATLHS MMVRSSHQLS KQISDLIRQP STAPQPVKED IATPLPSEKT
2960 2970 2980 2990 3000
PTSVNQTPVE TNEFPQLPEG LEKKPIVLKF SAMLDGIAIG AALLPSLKAE
3010 3020 3030 3040 3050
YKMGRMRSHG MTGAQTRFTF ELPNHRLRFT SKVSATDMST IPPSASLNLP
3060 3070 3080 3090 3100
PVTMSGKYIM EEHDSYSDQV WSIDELPSKQ GYYLQGNYLR CVAEVGSFEH
3110 3120 3130 3140 3150
NLTTDLLNHL VFVQKVFMKE VNEVIQKVSG GEQPIPLWNE HDGTADGDKP
3160 3170 3180 3190 3200
KILLYSLNLQ FKGIQVTATT PSMRAVRFET GLIELELSNR LQTKASPGSS
3210 3220 3230 3240 3250
SYLKLFGKCQ VDLNLALGQI VKHQVYEEAG SDFHQVAYFK TRIGLRNALR
3260 3270 3280 3290 3300
EEISGSSDRE AVLITLNRPI VYAQPVAFDR AVLFWLNYKA AYDNWNEQRM
3310 3320 3330 3340 3350
ALHKDIHMAT KEVVDMLPGI QQTSAQAFGT LFLQLTVNDL GICLPITNTA
3360 3370 3380 3390 3400
QSNHTGDLDT GSALVLTIES TLITACSSES LVSKGHFKNF CIRFADGFET
3410 3420 3430 3440 3450
SWDDWKPEIH GDLVMNACVV PDGTYEVCSR TTGQAAAESS SAGTWTLNVL
3460 3470 3480 3490 3500
WKMCGIDVHM DPNIGKRLNA LGNTLTTLTG EEDIDDIADL NSVNIADLSD
3510 3520 3530 3540 3550
EDEVDTMSPT IHTEATDYRR QAASASQPGE LRGRKIMKRI VDIRELNEQA
3560 3570 3580 3590 3600
KVIDDLKKLG ASEGTINQEI QRYQQLESVA VNDIRRDVRK KLRRSSMRAA
3610 3620 3630 3640 3650
SLKDKWGLSY KPSYSRSKSI SASGRPPLKR MERASSRVGE TEELPEIRVD
3660 3670 3680 3690 3700
AASPGPRVTF NIQDTFPEET ELDLLSVTIE GPSHYSSNSE GSCSVFSSPK
3710 3720 3730 3740 3750
TPGGFSPGIP FQTEEGRRDD SLSSTSEDSE KDEKDEDHER ERFYIYRKPS
3760 3770 3780 3790 3800
HTSRKKATGF AAVHQLFTER WPTTPVNRSL SGTATERNID FELDIRVEID
3810 3820 3830 3840 3850
SGKCVLHPTT LLQEHDDISL RRSYDRSSRS LDQDSPSKKK KFQTNYASTT
3860 3870 3880 3890 3900
HLMTGKKVPS SLQTKPSDLE TTVFYIPGVD VKLHYNSKTL KTESPNASRG
3910 3920 3930 3940 3950
SSLPRTLSKE SKLYGMKDSA TSPPSPPLPS TVQSKTNTLL PPQPPPIPAA
3960 3970 3980 3990 4000
KGKGSGGVKT AKLYAWVALQ SLPEEMVISP CLLDFLEKAL ETIPITPVER
4010 4020 4030 4040 4050
NYTAVSSQDE DMGHFEIPDP MEESTTSLVS SSTSAYSSFP VDVVVYVRVQ
4060 4070 4080 4090 4100
PSQIKFSCLP VSRVECMLKL PSLDLVFSSN RGELETLGTT YPAETLSPGG
4110 4120 4130 4140 4150
NATQSGTKTS ASKTGIPGSS GLGSPLGRSR HSSSQSDLTS SSSSSSGLSF
4160 4170 4180 4190 4200
TACMSDFSLY VFHPYGAGKQ KTAVSGLTPG SGGLGNVDEE PTSVTGRKDS
4210 4220 4230 4240 4250
LSINLEFVKV SLSRIRRSGG ASFFESQSVS KSASKMDTTL INISAVCDIG
4260 4270 4280 4290 4300
SASFKYDMRR LSEILAFPRA WYRRSIARRL FLGDQTINLP TSGPGTPDSI
4310 4320 4330 4340 4350
EGVSQHLSPE SSRKAYCKTW EQPSQSASFT HMPQSPNVFN EHMTNSTMSP
4360 4370 4380 4390 4400
GTVGQSLKSP ASIRSRSVSD SSVPRRDSLS KTSTPFNKSN KAASQQGTPW
4410 4420 4430 4440 4450
ETLVVFAINL KQLNVQMNMS NVMGNTTWTT SGLKSQGRLS VGSNRDREIS
4460 4470 4480 4490 4500
MSVGLGRSQL DSKGGVVGGT IDVNALEMVA HISEHPNQQP SHKIQITMGS
4510 4520 4530 4540 4550
TEARVDYMGS SILMGIFSNA DLKLQDEWKV NLYNTLDSSI TDKSEIFVHG
4560 4570 4580 4590 4600
DLKWDIFQVM ISRSTTPDLI KIGMKLQEFF TQQFDTSKRA LSTWGPVPYL
4610 4620 4630 4640 4650
PPKTMTSNLE KSSQEQLLDA AHHRHWPGVL KVVSGCHISL FQIPLPEDGM
4660 4670 4680 4690 4700
QFGGSMSLHG NHMTLACFHG PNFRSKSWAL FHLEEPNIAF WTEAQKIWED
4710 4720 4730 4740 4750
GSSDHSTYIV QTLDFHLGHN TMVTKPCGAL ESPMATITKI TRRRHENPPH
4760 4770 4780 4790 4800
GVASVKEWFN YVTATRNEEL NLLRNVDANN TENSTTVKNS SLLSGFRGGS
4810 4820 4830 4840 4850
SYNHETETIF ALPRMQLDFK SIHVQEPQEP SLQDASLKPK VECSVVTEFT
4860 4870 4880 4890 4900
DHICVTMDAE LIMFLHDLVS AYLKEKEKAI FPPRILSTRP GQKSPIIIHD
4910 4920 4930 4940 4950
DNSSDKDRED SITYTTVDWR DFMCNTWHLE PTLRLISWTG RKIDPVGVDY
4960 4970 4980 4990 5000
ILQKLGFHHA RTTIPKWLQR GVMDPLDKVL SVLIKKLGTA LQDEKEKKGK

DKEEH
Length:5,005
Mass (Da):555,482
Last modified:January 11, 2011 - 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:i8EF3E5E73AF2A37D
GO
Isoform 2 (identifier: Q2LD37-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     871-871: Missing.
     2865-2874: TVVKCSIAKS → YVILFFFMAL
     2875-5005: Missing.

Show »
Length:2,873
Mass (Da):320,011
Checksum:i3B1ED8906210DC5B
GO
Isoform 4 (identifier: Q2LD37-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     871-871: Missing.

Show »
Length:5,004
Mass (Da):555,354
Checksum:i3C15463DF6C3EC96
GO
Isoform 5 (identifier: Q2LD37-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     932-984: LACLLEWGQT...LSCIPGPCPT → VWFSEYYLLT...ILAIQNFSYR
     985-5005: Missing.

Note: No experimental confirmation available.
Show »
Length:984
Mass (Da):113,058
Checksum:iC0A50F4C57EB6A88
GO
Isoform 6 (identifier: Q2LD37-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3666-3680: FPEETELDLLSVTIE → IAEIRRKKISFKVVF
     3681-5005: Missing.

Note: No experimental confirmation available.
Show »
Length:3,680
Mass (Da):409,385
Checksum:i8C8ABFE3C29EBEFD
GO
Isoform 7 (identifier: Q2LD37-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     4245-4251: AVCDIGS → GTQFYSF
     4252-5005: Missing.

Note: No experimental confirmation available.
Show »
Length:4,251
Mass (Da):470,929
Checksum:i7B909C4F2690D1C8
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 8 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y781H0Y781_HUMAN
Transmembrane protein KIAA1109
KIAA1109
1,674Annotation 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>
H3BLT5H3BLT5_HUMAN
Transmembrane protein KIAA1109
KIAA1109
1,381Annotation 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>
H7C0G8H7C0G8_HUMAN
Transmembrane protein KIAA1109
KIAA1109
1,447Annotation 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>
H7C070H7C070_HUMAN
Transmembrane protein KIAA1109
KIAA1109
1,638Annotation 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>
H7C121H7C121_HUMAN
Transmembrane protein KIAA1109
KIAA1109
1,247Annotation 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>
H7C0Y8H7C0Y8_HUMAN
Transmembrane protein KIAA1109
KIAA1109
197Annotation 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>
H7C2X5H7C2X5_HUMAN
Transmembrane protein KIAA1109
KIAA1109
208Annotation 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>
H7C3N8H7C3N8_HUMAN
Transmembrane protein KIAA1109
KIAA1109
164Annotation 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 AAH18094 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAH45783 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence AAI08275 differs from that shown. Reason: Erroneous termination at position 4807. Translated as Glu.Curated
The sequence BAB15057 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC85988 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAC87084 differs from that shown. Probable cloning artifact.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 conflicti26N → G in ABC59821 (PubMed:16545529).Curated1
Sequence conflicti155E → G in ABC59821 (PubMed:16545529).Curated1
Sequence conflicti247M → T in ABC59821 (PubMed:16545529).Curated1
Sequence conflicti336G → S in ABC59821 (PubMed:16545529).Curated1
Sequence conflicti571D → G in ABC59821 (PubMed:16545529).Curated1
Sequence conflicti857L → P in BAC85988 (PubMed:14702039).Curated1
Sequence conflicti2456T → A in CAI56756 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080684519 – 5005Missing in ALKKUCS. 2 PublicationsAdd BLAST4487
Natural variantiVAR_080685968R → C in ALKKUCS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1051597475EnsemblClinVar.1
Natural variantiVAR_038547978I → T. Corresponds to variant dbSNP:rs6848868Ensembl.1
Natural variantiVAR_0806861329Y → C in ALKKUCS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs770791100EnsemblClinVar.1
Natural variantiVAR_0806871573M → I in ALKKUCS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs368227278Ensembl.1
Natural variantiVAR_0806881867V → M in ALKKUCS; unknown pathological significance. 1 Publication1
Natural variantiVAR_0612411951D → E. Corresponds to variant dbSNP:rs56363411Ensembl.1
Natural variantiVAR_0806891958R → Q in ALKKUCS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1263871665Ensembl.1
Natural variantiVAR_0612422521S → R. Corresponds to variant dbSNP:rs45608936Ensembl.1
Natural variantiVAR_0806903050P → H in ALKKUCS; unknown pathological significance. 1 Publication1
Natural variantiVAR_0806913385G → R in ALKKUCS; unknown pathological significance. 1 Publication1
Natural variantiVAR_0806924023 – 5005Missing in ALKKUCS. 1 PublicationAdd BLAST983
Natural variantiVAR_0385484352T → A. Corresponds to variant dbSNP:rs2306369Ensembl.1
Natural variantiVAR_0385494786T → A. Corresponds to variant dbSNP:rs10017270Ensembl.1

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_031023871Missing in isoform 2 and isoform 4. 2 Publications1
Alternative sequenceiVSP_031024932 – 984LACLL…GPCPT → VWFSEYYLLTYFLFPFSTHL LKNNLYACLNVHCISTDGIL MGVILAIQNFSYR in isoform 5. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_031025985 – 5005Missing in isoform 5. 1 PublicationAdd BLAST4021
Alternative sequenceiVSP_0310262865 – 2874TVVKCSIAKS → YVILFFFMAL in isoform 2. 2 Publications10
Alternative sequenceiVSP_0310272875 – 5005Missing in isoform 2. 2 PublicationsAdd BLAST2131
Alternative sequenceiVSP_0310283666 – 3680FPEET…SVTIE → IAEIRRKKISFKVVF in isoform 6. 1 PublicationAdd BLAST15
Alternative sequenceiVSP_0310293681 – 5005Missing in isoform 6. 1 PublicationAdd BLAST1325
Alternative sequenceiVSP_0310304245 – 4251AVCDIGS → GTQFYSF in isoform 7. Curated7
Alternative sequenceiVSP_0310314252 – 5005Missing in isoform 7. CuratedAdd BLAST754

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
DQ335469 mRNA Translation: ABC59821.1
AC022489 Genomic DNA No translation available.
AC127089 Genomic DNA Translation: AAY41044.1
AC104658 Genomic DNA No translation available.
AK025057 mRNA Translation: BAB15057.1 Different initiation.
AK124902 mRNA Translation: BAC85988.1 Different initiation.
AK127686 mRNA Translation: BAC87084.1 Sequence problems.
AB037792 mRNA Translation: BAA92609.1
AL137254 mRNA Translation: CAB70656.1
AL137384 mRNA Translation: CAB70718.1
AL137532 mRNA Translation: CAB70795.1
CR936613 mRNA Translation: CAI56756.1
AB029032 mRNA Translation: BAA83061.2
BC108274 mRNA Translation: AAI08275.1 Sequence problems.
BC018094 mRNA Translation: AAH18094.2 Different initiation.
BC045783 mRNA Translation: AAH45783.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43267.1 [Q2LD37-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
T46326
T46376
T46438

NCBI Reference Sequences

More...
RefSeqi
NP_056127.2, NM_015312.3 [Q2LD37-1]
XP_005263344.1, XM_005263287.1 [Q2LD37-1]
XP_006714407.1, XM_006714344.1 [Q2LD37-4]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000264501; ENSP00000264501; ENSG00000138688 [Q2LD37-1]
ENST00000388738; ENSP00000373390; ENSG00000138688 [Q2LD37-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
84162

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:84162

UCSC genome browser

More...
UCSCi
uc003ieh.4 human [Q2LD37-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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
DQ335469 mRNA Translation: ABC59821.1
AC022489 Genomic DNA No translation available.
AC127089 Genomic DNA Translation: AAY41044.1
AC104658 Genomic DNA No translation available.
AK025057 mRNA Translation: BAB15057.1 Different initiation.
AK124902 mRNA Translation: BAC85988.1 Different initiation.
AK127686 mRNA Translation: BAC87084.1 Sequence problems.
AB037792 mRNA Translation: BAA92609.1
AL137254 mRNA Translation: CAB70656.1
AL137384 mRNA Translation: CAB70718.1
AL137532 mRNA Translation: CAB70795.1
CR936613 mRNA Translation: CAI56756.1
AB029032 mRNA Translation: BAA83061.2
BC108274 mRNA Translation: AAI08275.1 Sequence problems.
BC018094 mRNA Translation: AAH18094.2 Different initiation.
BC045783 mRNA Translation: AAH45783.1 Different initiation.
CCDSiCCDS43267.1 [Q2LD37-1]
PIRiT46326
T46376
T46438
RefSeqiNP_056127.2, NM_015312.3 [Q2LD37-1]
XP_005263344.1, XM_005263287.1 [Q2LD37-1]
XP_006714407.1, XM_006714344.1 [Q2LD37-4]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi123919, 6 interactors
IntActiQ2LD37, 5 interactors
MINTiQ2LD37
STRINGi9606.ENSP00000264501

PTM databases

iPTMnetiQ2LD37
PhosphoSitePlusiQ2LD37

Polymorphism and mutation databases

BioMutaiKIAA1109
DMDMi317373370

Proteomic databases

EPDiQ2LD37
jPOSTiQ2LD37
MaxQBiQ2LD37
PaxDbiQ2LD37
PeptideAtlasiQ2LD37
PRIDEiQ2LD37
ProteomicsDBi61331
61332 [Q2LD37-2]
61333 [Q2LD37-4]
61334 [Q2LD37-5]
61335 [Q2LD37-6]
61336 [Q2LD37-7]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
84162
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264501; ENSP00000264501; ENSG00000138688 [Q2LD37-1]
ENST00000388738; ENSP00000373390; ENSG00000138688 [Q2LD37-1]
GeneIDi84162
KEGGihsa:84162
UCSCiuc003ieh.4 human [Q2LD37-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
84162
DisGeNETi84162

GeneCards: human genes, protein and diseases

More...
GeneCardsi
KIAA1109
HGNCiHGNC:26953 KIAA1109
HPAiHPA038076
MalaCardsiKIAA1109
MIMi611565 gene
617822 phenotype
neXtProtiNX_Q2LD37
OpenTargetsiENSG00000138688
PharmGKBiPA142671621

Human Unidentified Gene-Encoded large proteins database

More...
HUGEi
Search...
Search...

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3596 Eukaryota
ENOG410XT7P LUCA
GeneTreeiENSGT00640000091487
InParanoidiQ2LD37
OMAiVPTTCNT
OrthoDBi77777at2759
PhylomeDBiQ2LD37
TreeFamiTF105915

Miscellaneous databases

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

More...
ChiTaRSi
KIAA1109 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
KIAA1109

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

More...
GenomeRNAii
84162

Protein Ontology

More...
PROi
PR:Q2LD37

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000138688 Expressed in 236 organ(s), highest expression level in corpus callosum
ExpressionAtlasiQ2LD37 baseline and differential
GenevisibleiQ2LD37 HS

Family and domain databases

InterProiView protein in InterPro
IPR018863 Fragile_site-assoc_C
IPR033616 KIAA1109
PANTHERiPTHR31640 PTHR31640, 1 hit
PfamiView protein in Pfam
PF10479 FSA_C, 2 hits
SMARTiView protein in SMART
SM01220 FSA_C, 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 nameiK1109_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: Q2LD37
Secondary accession number(s): Q4W598
, Q5CZA9, Q6ZS70, Q6ZV75, Q86XA5, Q8WVD8, Q9H742, Q9NT48, Q9NTC3, Q9NTI4, Q9P2H6, Q9UPP3
<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: February 5, 2008
Last sequence update: January 11, 2011
Last modified: May 8, 2019
This is version 111 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

Complete proteome, Reference proteome

Documents

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