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Entry version 130 (08 May 2019)
Sequence version 2 (13 Jul 2010)
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Protein

Cytospin-A

Gene

SPECC1L

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

Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration.1 Publication

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

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

Biological processCell cycle, Cell division

<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:
Cytospin-A
Alternative name(s):
Renal carcinoma antigen NY-REN-22
Sperm antigen with calponin homology and coiled-coil domains 1-like
Short name:
SPECC1-like 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:SPECC1L
Synonyms:CYTSA, KIAA0376
<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 22

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:29022 SPECC1L

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614140 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q69YQ0

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

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

Keywords - Cellular componenti

Cell junction, Cytoplasm, Cytoskeleton, Gap junction

<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

Facial clefting, oblique, 1 (OBLFC1)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA rare form of facial clefting. A facial cleft is any of the fissures between the embryonic prominences that normally unite to form the face.
See also OMIM:600251
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_066873415Q → P in OBLFC1; severely impairs the stabilization of microtubules. 1 Publication1
Opitz GBBB syndrome 2 (GBBB2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Opitz GBBB syndrome, a congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects.
See also OMIM:145410
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073384397T → P in GBBB2; has an abnormal punctate expression pattern; has a drastically reduced ability to stabilize microtubules. 1 Publication1
Natural variantiVAR_0733851083G → S in GBBB2; has an abnormal punctate expression pattern; has a drastically reduced ability to stabilize microtubules. 1 Publication1
Hypertelorism, Teebi type (TBHS)1 Publication
The disease may be caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant syndrome characterized by an abnormally increased distance between ocular orbits, and facial features that can resemble craniofrontonasal dysplasia such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin. Affected individuals have limb, urogenital, umbilical and cardiac defects.
See also OMIM:145420
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_081478400 – 401Missing in TBHS; unknown pathological significance. 1 Publication2
Natural variantiVAR_081479420E → D in TBHS; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
23384

MalaCards human disease database

More...
MalaCardsi
SPECC1L
MIMi145410 phenotype
145420 phenotype
600251 phenotype

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

More...
Orphaneti
306588 Autosomal dominant Opitz G/BBB syndrome
1519 Hypertelorism, Teebi type
141258 Tessier number 4 facial cleft
141276 Tessier number 7 facial cleft

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA164718673

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SPECC1L

Domain mapping of disease mutations (DMDM)

More...
DMDMi
300669640

<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_00002310181 – 1117Cytospin-AAdd BLAST1117

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 residuei384PhosphoserineBy similarity1
Modified residuei385PhosphoserineBy similarity1
Modified residuei389PhosphoserineBy similarity1
Modified residuei868PhosphoserineCombined sources1
Modified residuei881PhosphoserineCombined sources1
Modified residuei887PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q69YQ0

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q69YQ0

MaxQB - The MaxQuant DataBase

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MaxQBi
Q69YQ0

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

More...
PaxDbi
Q69YQ0

PeptideAtlas

More...
PeptideAtlasi
Q69YQ0

PRoteomics IDEntifications database

More...
PRIDEi
Q69YQ0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
66168

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q69YQ0

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

More...
PhosphoSitePlusi
Q69YQ0

<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

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Bgeei
ENSG00000100014 Expressed in 219 organ(s), highest expression level in female gonad

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q69YQ0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q69YQ0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA070614

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

May interact with both microtubules and actin cytoskeleton.

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
116960, 74 interactors

Database of interacting proteins

More...
DIPi
DIP-33173N

Protein interaction database and analysis system

More...
IntActi
Q69YQ0, 40 interactors

Molecular INTeraction database

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MINTi
Q69YQ0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000325785

<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

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SMRi
Q69YQ0

Database of comparative protein structure models

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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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1011 – 1116Calponin-homology (CH)PROSITE-ProRule annotationAdd BLAST106

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili168 – 280Sequence analysisAdd BLAST113
Coiled coili394 – 449Sequence analysisAdd BLAST56
Coiled coili487 – 807Sequence analysisAdd BLAST321

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 biasi858 – 861Poly-Ala4

<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 cytospin-A family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG4678 Eukaryota
COG5069 LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000015307

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q69YQ0

KEGG Orthology (KO)

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KOi
K23028

Database of Orthologous Groups

More...
OrthoDBi
854083at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q69YQ0

TreeFam database of animal gene trees

More...
TreeFami
TF316716

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00014 CH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.418.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR040166 CYTSA

The PANTHER Classification System

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PANTHERi
PTHR23167:SF18 PTHR23167:SF18, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00307 CH, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00033 CH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47576 SSF47576, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50021 CH, 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>Sequences (2+)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 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.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

Isoform 1 (identifier: Q69YQ0-1) [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
MKKASRSVGS VPKVSAISKT QTAEKIKPEN SSSASTGGKL VKPGTAASLS
60 70 80 90 100
KTKSSDDLLA GMAGGVTVTN GVKGKKSTCP SAAPSASAPA MTTVENKSKI
110 120 130 140 150
STGTASSTKR STSTGNKESS STRERLRERT RLNQSKKLPS AGQGANDMAL
160 170 180 190 200
AKRSRSRTAT ECDVRMSKSK SDNQISDRAA LEAKVKDLLT LAKTKDVEIL
210 220 230 240 250
HLRNELRDMR AQLGINEDHS EGDEKSEKET IMAHQPTDVE STLLQLQEQN
260 270 280 290 300
TAIREELNQL KNENRMLKDR LNALGFSLEQ RLDNSEKLFG YQSLSPEITP
310 320 330 340 350
DNQSDGGGTL TSSVEGSAPG SVEDLLSQDE NTLMDHQHSN SMDNLDSECS
360 370 380 390 400
EVYQPLTSSD DALDAPSSSE SEGIPSIERS RKGSSGNASE VSVACLTERI
410 420 430 440 450
HQMEENQHST SEELQATLQE LADLQQITQE LNSENERLGE EKVILMESLC
460 470 480 490 500
QQSDKLEHFS RQIEYFRSLL DEHHISYVID EDVKSGRYME LEQRYMDLAE
510 520 530 540 550
NARFEREQLL GVQQHLSNTL KMAEQDNKEA QEMIGALKER SHHMERIIES
560 570 580 590 600
EQKGKAALAA TLEEYKATVA SDQIEMNRLK AQLENEKQKV AELYSIHNSG
610 620 630 640 650
DKSDIQDLLE SVRLDKEKAE TLASSLQEDL AHTRNDANRL QDAIAKVEDE
660 670 680 690 700
YRAFQEEAKK QIEDLNMTLE KLRSDLDEKE TERSDMKETI FELEDEVEQH
710 720 730 740 750
RAVKLHDNLI ISDLENTVKK LQDQKHDMER EIKTLHRRLR EESAEWRQFQ
760 770 780 790 800
ADLQTAVVIA NDIKSEAQEE IGDLKRRLHE AQEKNEKLTK ELEEIKSRKQ
810 820 830 840 850
EEERGRVYNY MNAVERDLAA LRQGMGLSRR SSTSSEPTPT VKTLIKSFDS
860 870 880 890 900
ASQVPNPAAA AIPRTPLSPS PMKTPPAAAV SPMQRHSISG PISTSKPLTA
910 920 930 940 950
LSDKRPNYGE IPVQEHLLRT SSASRPASLP RVPAMESAKT LSVSRRSSEE
960 970 980 990 1000
VKRDISAQEG ASPASLMAMG TTSPQLSLSS SPTASVTPTT RSRIREERKD
1010 1020 1030 1040 1050
PLSALAREYG GSKRNALLKW CQKKTEGYQN IDITNFSSSW NDGLAFCALL
1060 1070 1080 1090 1100
HTYLPAHIPY QELNSQDKRR NFMLAFQAAE SVGIKSTLDI NEMVRTERPD
1110
WQNVMLYVTA IYKYFET
Length:1,117
Mass (Da):124,602
Last modified:July 13, 2010 - 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:i607845611F5301C3
GO
Isoform 2 (identifier: Q69YQ0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1030-1068: Missing.

Show »
Length:1,078
Mass (Da):120,182
Checksum:i69B7490E00156AF2
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
C9J8U1C9J8U1_HUMAN
Cytospin-A
SPECC1L
788Annotation 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>
C9JLY8C9JLY8_HUMAN
Cytospin-A
SPECC1L
175Annotation 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>

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 conflicti375P → L in AAX84184 (Ref. 1) Curated1
Sequence conflicti375P → L in CAH10609 (PubMed:14702039).Curated1
Sequence conflicti1041N → K in BAA21574 (PubMed:10591208).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_066872190T → M No effect on the stabilization of microtubules. 1 PublicationCorresponds to variant dbSNP:rs142144652Ensembl.1
Natural variantiVAR_060448301D → G4 PublicationsCorresponds to variant dbSNP:rs204710Ensembl.1
Natural variantiVAR_073384397T → P in GBBB2; has an abnormal punctate expression pattern; has a drastically reduced ability to stabilize microtubules. 1 Publication1
Natural variantiVAR_081478400 – 401Missing in TBHS; unknown pathological significance. 1 Publication2
Natural variantiVAR_066873415Q → P in OBLFC1; severely impairs the stabilization of microtubules. 1 Publication1
Natural variantiVAR_081479420E → D in TBHS; unknown pathological significance. 1 Publication1
Natural variantiVAR_060449712S → F. Corresponds to variant dbSNP:rs5760340Ensembl.1
Natural variantiVAR_060450717T → A. Corresponds to variant dbSNP:rs6004132Ensembl.1
Natural variantiVAR_060451943V → A. Corresponds to variant dbSNP:rs11704759Ensembl.1
Natural variantiVAR_060452951V → M4 PublicationsCorresponds to variant dbSNP:rs204718Ensembl.1
Natural variantiVAR_0733851083G → S in GBBB2; has an abnormal punctate expression pattern; has a drastically reduced ability to stabilize microtubules. 1 Publication1

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_0473591030 – 1068Missing in isoform 2. 1 PublicationAdd BLAST39

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AY884293 mRNA Translation: AAX84184.1
AK301482 mRNA Translation: BAH13494.1
AL832425 mRNA Translation: CAH10609.1
AP000354 Genomic DNA No translation available.
AP000355 Genomic DNA No translation available.
AB002374 mRNA Translation: BAA21574.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS33619.1 [Q69YQ0-1]
CCDS58797.1 [Q69YQ0-2]

NCBI Reference Sequences

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RefSeqi
NP_001241661.2, NM_001254732.2
NP_056145.4, NM_015330.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000314328; ENSP00000325785; ENSG00000100014
ENST00000437398; ENSP00000393363; ENSG00000100014
ENST00000541492; ENSP00000439633; ENSG00000100014

Database of genes from NCBI RefSeq genomes

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GeneIDi
23384

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:23384

UCSC genome browser

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UCSCi
uc002zzv.6 human [Q69YQ0-1]

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
AY884293 mRNA Translation: AAX84184.1
AK301482 mRNA Translation: BAH13494.1
AL832425 mRNA Translation: CAH10609.1
AP000354 Genomic DNA No translation available.
AP000355 Genomic DNA No translation available.
AB002374 mRNA Translation: BAA21574.1
CCDSiCCDS33619.1 [Q69YQ0-1]
CCDS58797.1 [Q69YQ0-2]
RefSeqiNP_001241661.2, NM_001254732.2
NP_056145.4, NM_015330.4

3D structure databases

SMRiQ69YQ0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116960, 74 interactors
DIPiDIP-33173N
IntActiQ69YQ0, 40 interactors
MINTiQ69YQ0
STRINGi9606.ENSP00000325785

PTM databases

iPTMnetiQ69YQ0
PhosphoSitePlusiQ69YQ0

Polymorphism and mutation databases

BioMutaiSPECC1L
DMDMi300669640

Proteomic databases

EPDiQ69YQ0
jPOSTiQ69YQ0
MaxQBiQ69YQ0
PaxDbiQ69YQ0
PeptideAtlasiQ69YQ0
PRIDEiQ69YQ0
ProteomicsDBi66168

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314328; ENSP00000325785; ENSG00000100014
ENST00000437398; ENSP00000393363; ENSG00000100014
ENST00000541492; ENSP00000439633; ENSG00000100014
GeneIDi23384
KEGGihsa:23384
UCSCiuc002zzv.6 human [Q69YQ0-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
23384
DisGeNETi23384

GeneCards: human genes, protein and diseases

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GeneCardsi
SPECC1L

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0016229
HIX0213259
HGNCiHGNC:29022 SPECC1L
HPAiHPA070614
MalaCardsiSPECC1L
MIMi145410 phenotype
145420 phenotype
600251 phenotype
614140 gene
neXtProtiNX_Q69YQ0
Orphaneti306588 Autosomal dominant Opitz G/BBB syndrome
1519 Hypertelorism, Teebi type
141258 Tessier number 4 facial cleft
141276 Tessier number 7 facial cleft
PharmGKBiPA164718673

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG4678 Eukaryota
COG5069 LUCA
HOGENOMiHOG000015307
InParanoidiQ69YQ0
KOiK23028
OrthoDBi854083at2759
PhylomeDBiQ69YQ0
TreeFamiTF316716

Miscellaneous databases

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

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ChiTaRSi
SPECC1L human

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

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GenomeRNAii
23384

Protein Ontology

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PROi
PR:Q69YQ0

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000100014 Expressed in 219 organ(s), highest expression level in female gonad
ExpressionAtlasiQ69YQ0 baseline and differential
GenevisibleiQ69YQ0 HS

Family and domain databases

CDDicd00014 CH, 1 hit
Gene3Di1.10.418.10, 1 hit
InterProiView protein in InterPro
IPR001715 CH-domain
IPR036872 CH_dom_sf
IPR040166 CYTSA
PANTHERiPTHR23167:SF18 PTHR23167:SF18, 1 hit
PfamiView protein in Pfam
PF00307 CH, 1 hit
SMARTiView protein in SMART
SM00033 CH, 1 hit
SUPFAMiSSF47576 SSF47576, 1 hit
PROSITEiView protein in PROSITE
PS50021 CH, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCYTSA_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: Q69YQ0
Secondary accession number(s): B7Z758, F5H1H6, O15081
<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: April 4, 2006
Last sequence update: July 13, 2010
Last modified: May 8, 2019
This is version 130 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 22
    Human chromosome 22: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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