Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Entry version 131 (02 Jun 2021)
Sequence version 1 (23 Nov 2004)
Previous versions | rss
Add a publicationFeedback
Protein

ALS2 C-terminal-like protein

Gene

ALS2CL

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

Acts as a guanine nucleotide exchange factor (GEF) for Rab5 GTPase. Regulates the ALS2-mediated endosome dynamics.

3 Publications

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

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 functionGTPase activation

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...
PathwayCommonsi
Q60I27

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8876198, RAB GEFs exchange GTP for GDP on RABs

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
ALS2 C-terminal-like protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:ALS2CL
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:20605, ALS2CL

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
612402, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q60I27

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000178038.16

<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

Keywords - Cellular componenti

Cytoplasm

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
259173

Open Targets

More...
OpenTargetsi
ENSG00000178038

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134949717

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q60I27, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
ALS2CL

Domain mapping of disease mutations (DMDM)

More...
DMDMi
74708351

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

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003138491 – 953ALS2 C-terminal-like proteinAdd BLAST953

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q60I27

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q60I27

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q60I27

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q60I27

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

More...
PaxDbi
Q60I27

PeptideAtlas

More...
PeptideAtlasi
Q60I27

PRoteomics IDEntifications database

More...
PRIDEi
Q60I27

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
65869 [Q60I27-1]
65870 [Q60I27-2]
65871 [Q60I27-3]
65872 [Q60I27-4]
65873 [Q60I27-5]
65874 [Q60I27-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q60I27

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

More...
PhosphoSitePlusi
Q60I27

<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

Expressed in heart and kidney.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000178038, Expressed in left lobe of thyroid gland and 227 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q60I27, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q60I27, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000178038, Tissue enhanced (skin)

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

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

Homodimer.

Forms a heteromeric complex with ALS2 (By similarity).

Interacts with ALS2 and RAB5A.

By similarity2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
129223, 7 interactors

Protein interaction database and analysis system

More...
IntActi
Q60I27, 7 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000313670

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q60I27, protein

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati358 – 380MORN 1Add BLAST23
Repeati381 – 403MORN 2Add BLAST23
Repeati409 – 431MORN 3Add BLAST23
Repeati432 – 452MORN 4Add BLAST21
Repeati459 – 479MORN 5Add BLAST21
Repeati483 – 505MORN 6Add BLAST23
Repeati506 – 528MORN 7Add BLAST23
Repeati529 – 552MORN 8Add BLAST24
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">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>Domaini796 – 942VPS9PROSITE-ProRule annotationAdd BLAST147

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG0231, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161305

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_013321_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q60I27

Identification of Orthologs from Complete Genome Data

More...
OMAi
CYKCHWQ

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q60I27

TreeFam database of animal gene trees

More...
TreeFami
TF331793

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.20.1050.80, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR035899, DBL_dom_sf
IPR003409, MORN
IPR003123, VPS9
IPR037191, VPS9_dom_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF02493, MORN, 7 hits
PF02204, VPS9, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00698, MORN, 7 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF109993, SSF109993, 1 hit
SSF48065, SSF48065, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51205, VPS9, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

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

This entry describes 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 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q60I27-1) [UniParc]FASTAAdd to basket

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

« Hide
        10         20         30         40         50
MCNPEEAALL RLEEVFSATL AHVNSLVLQP LLPAAPDPSD PWGRECLRLL
60 70 80 90 100
QQLHKSSQQL WEVTEESLHS LQERLRYPDS TGLESLLLLR GADRVLQAHI
110 120 130 140 150
EYIESYTSCM VVQAFQKAAK RRSEYWRGQR KALRQLLSGV SSEGSVGASL
160 170 180 190 200
GQALHQPLAH HVQQYVLLLL SLGDTIGEHH PTRELVVNAV TLFGNLQSFM
210 220 230 240 250
KQELDQAVAT QALWHTLRGR LRDVLCTPAH RLLQDSQDVP VTVAPLRAER
260 270 280 290 300
VLLFDDALVL LQGHNVHTFD LKLVWVDPGQ DGCTFHLLTP EEEFSFCAKD
310 320 330 340 350
SQGQAVWQWK VTWAVHQALH GKKDFPVLGA GLEPSQPPDC RCAEYTFQAE
360 370 380 390 400
GRLCQATYEG EWCRGRPHGK GTLKWPDGRN HVGNFCQGLE HGFGIRLLPQ
410 420 430 440 450
ASEDKFDCYK CHWREGSMCG YGICEYSTDE VYKGYFQEGL RHGFGVLESG
460 470 480 490 500
PQAPQPFRYT GHWERGQRSG YGIEEDGDRG ERYIGMWQAG QRHGPGVMVT
510 520 530 540 550
QAGVCYQGTF QADKTVGPGI LLSEDDSLYE GTFTRDLTLM GKGKVTFPNG
560 570 580 590 600
FTLEGSFGSG AGRGLHTQGV LDTAALPPDP SSTCKRQLGV GAFPVESRWQ
610 620 630 640 650
GVYSPFRDFV CAGCPRDLQE ALLGFDVQSS RELRRSQDYL SCERTHPEDS
660 670 680 690 700
VGSMEDILEE LLQHREPKAL QLYLRKALSN SLHPLGKLLR TLMLTFQATY
710 720 730 740 750
AGVGANKHLQ ELAQEEVKQH AQELWAAYRG LLRVALERKG QALEEDEDTE
760 770 780 790 800
TRDLQVHGLV LPLMLPSFYS ELFTLYLLLH EREDSFYSQG IANLSLFPDT
810 820 830 840 850
QLLEFLDVQK HLWPLKDLTL TSNQRYSLVR DKCFLSATEC LQKIMTTVDP
860 870 880 890 900
REKLEVLERT YGEIEGTVSR VLGREYKLPM DDLLPLLIYV VSRARIQHLG
910 920 930 940 950
AEIHLIRDMM DPNHTGGLYD FLLTALESCY EHIQKEDMRL HRLPGHWHSR

ELW
Length:953
Mass (Da):107,748
Last modified:November 23, 2004 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1BBC38A16E6A1168
GO
Isoform 2 (identifier: Q60I27-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-199: Missing.

Show »
Length:754
Mass (Da):85,486
Checksum:i16CC02DED68F8FBD
GO
Isoform 3 (identifier: Q60I27-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-485: Missing.

Show »
Length:468
Mass (Da):53,078
Checksum:i4CB253A0BCBE0773
GO
Isoform 4 (identifier: Q60I27-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-763: Missing.
     896-953: IQHLGAEIHL...PGHWHSRELW → WGSQGPEKGG...APGSRDPPDP

Show »
Length:205
Mass (Da):23,054
Checksum:i2801624E1A7964C2
GO
Isoform 5 (identifier: Q60I27-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-763: Missing.

Show »
Length:190
Mass (Da):22,425
Checksum:iD905F5101A2A5596
GO
Isoform 6 (identifier: Q60I27-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-653: Missing.

Show »
Length:300
Mass (Da):34,998
Checksum:i175FBE758A6FFF07
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
G5E9N5G5E9N5_HUMAN
ALS2 C-terminal like, isoform CRA_a
ALS2CL hCG_2043002
535Annotation 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>
H7C0M4H7C0M4_HUMAN
ALS2 C-terminal-like protein
ALS2CL
302Annotation 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 BAD18450 differs from that shown. Reason: Frameshift.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 conflicti172L → P in BAD18448 (PubMed:14702039).Curated1
Sequence conflicti430E → G in BAD18448 (PubMed:14702039).Curated1
Sequence conflicti711E → G in BAD18450 (PubMed:14702039).Curated1
Sequence conflicti893R → H in BAD18448 (PubMed:14702039).Curated1

Natural variant

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_06155429Q → R. Corresponds to variant dbSNP:rs59661801Ensembl.1
Natural variantiVAR_03779145E → Q1 PublicationCorresponds to variant dbSNP:rs7642448Ensembl.1
Natural variantiVAR_037792280Q → E in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_037793576L → F in a breast cancer sample; somatic mutation. 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_0301681 – 763Missing in isoform 4 and isoform 5. 2 PublicationsAdd BLAST763
Alternative sequenceiVSP_0438591 – 653Missing in isoform 6. 1 PublicationAdd BLAST653
Alternative sequenceiVSP_0301691 – 485Missing in isoform 3. 1 PublicationAdd BLAST485
Alternative sequenceiVSP_0301701 – 199Missing in isoform 2. 1 PublicationAdd BLAST199
Alternative sequenceiVSP_030171896 – 953IQHLG…SRELW → WGSQGPEKGGSQPGCWGARG RVRTTPQVSSHPGQRSFPSC LSATGLFSLSPSLSWWGGVL QNSAPGSRDPPDP in isoform 4. 1 PublicationAdd BLAST58

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
AB107015 mRNA Translation: BAD51817.1
AK092455 mRNA Translation: BAC03895.1
AK093844 mRNA Translation: BAC04237.1
AK131273 mRNA Translation: BAD18450.1 Frameshift.
AK131270 mRNA Translation: BAD18448.1
AK126505 mRNA Translation: BAC86572.1
AC104304 Genomic DNA No translation available.
AC134504 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW64777.1
BC042906 mRNA Translation: AAH42906.1
BC061883 mRNA Translation: AAH61883.1
BC075825 mRNA Translation: AAH75825.1
BC109233 mRNA Translation: AAI09234.1
CR627258 mRNA Translation: CAH10367.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS2743.1 [Q60I27-1]

NCBI Reference Sequences

More...
RefSeqi
NP_001177636.1, NM_001190707.1 [Q60I27-1]
NP_667340.2, NM_147129.4 [Q60I27-1]
XP_005265082.1, XM_005265025.1 [Q60I27-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000318962; ENSP00000313670; ENSG00000178038 [Q60I27-1]
ENST00000415953; ENSP00000413223; ENSG00000178038 [Q60I27-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
259173

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:259173

UCSC genome browser

More...
UCSCi
uc003cpx.3, human [Q60I27-1]

Keywords - Coding sequence diversityi

Alternative splicing

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

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB107015 mRNA Translation: BAD51817.1
AK092455 mRNA Translation: BAC03895.1
AK093844 mRNA Translation: BAC04237.1
AK131273 mRNA Translation: BAD18450.1 Frameshift.
AK131270 mRNA Translation: BAD18448.1
AK126505 mRNA Translation: BAC86572.1
AC104304 Genomic DNA No translation available.
AC134504 Genomic DNA No translation available.
CH471055 Genomic DNA Translation: EAW64777.1
BC042906 mRNA Translation: AAH42906.1
BC061883 mRNA Translation: AAH61883.1
BC075825 mRNA Translation: AAH75825.1
BC109233 mRNA Translation: AAI09234.1
CR627258 mRNA Translation: CAH10367.1
CCDSiCCDS2743.1 [Q60I27-1]
RefSeqiNP_001177636.1, NM_001190707.1 [Q60I27-1]
NP_667340.2, NM_147129.4 [Q60I27-1]
XP_005265082.1, XM_005265025.1 [Q60I27-3]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi129223, 7 interactors
IntActiQ60I27, 7 interactors
STRINGi9606.ENSP00000313670

PTM databases

iPTMnetiQ60I27
PhosphoSitePlusiQ60I27

Genetic variation databases

BioMutaiALS2CL
DMDMi74708351

Proteomic databases

EPDiQ60I27
jPOSTiQ60I27
MassIVEiQ60I27
MaxQBiQ60I27
PaxDbiQ60I27
PeptideAtlasiQ60I27
PRIDEiQ60I27
ProteomicsDBi65869 [Q60I27-1]
65870 [Q60I27-2]
65871 [Q60I27-3]
65872 [Q60I27-4]
65873 [Q60I27-5]
65874 [Q60I27-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
29738, 85 antibodies

The DNASU plasmid repository

More...
DNASUi
259173

Genome annotation databases

EnsembliENST00000318962; ENSP00000313670; ENSG00000178038 [Q60I27-1]
ENST00000415953; ENSP00000413223; ENSG00000178038 [Q60I27-1]
GeneIDi259173
KEGGihsa:259173
UCSCiuc003cpx.3, human [Q60I27-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
259173
DisGeNETi259173

GeneCards: human genes, protein and diseases

More...
GeneCardsi
ALS2CL
HGNCiHGNC:20605, ALS2CL
HPAiENSG00000178038, Tissue enhanced (skin)
MIMi612402, gene
neXtProtiNX_Q60I27
OpenTargetsiENSG00000178038
PharmGKBiPA134949717
VEuPathDBiHostDB:ENSG00000178038.16

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG0231, Eukaryota
GeneTreeiENSGT00940000161305
HOGENOMiCLU_013321_0_0_1
InParanoidiQ60I27
OMAiCYKCHWQ
PhylomeDBiQ60I27
TreeFamiTF331793

Enzyme and pathway databases

PathwayCommonsiQ60I27
ReactomeiR-HSA-8876198, RAB GEFs exchange GTP for GDP on RABs

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
259173, 13 hits in 984 CRISPR screens

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

More...
ChiTaRSi
ALS2CL, human

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

More...
GenomeRNAii
259173
PharosiQ60I27, Tbio

Protein Ontology

More...
PROi
PR:Q60I27
RNActiQ60I27, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000178038, Expressed in left lobe of thyroid gland and 227 other tissues
ExpressionAtlasiQ60I27, baseline and differential
GenevisibleiQ60I27, HS

Family and domain databases

Gene3Di1.20.1050.80, 1 hit
InterProiView protein in InterPro
IPR035899, DBL_dom_sf
IPR003409, MORN
IPR003123, VPS9
IPR037191, VPS9_dom_sf
PfamiView protein in Pfam
PF02493, MORN, 7 hits
PF02204, VPS9, 1 hit
SMARTiView protein in SMART
SM00698, MORN, 7 hits
SUPFAMiSSF109993, SSF109993, 1 hit
SSF48065, SSF48065, 1 hit
PROSITEiView protein in PROSITE
PS51205, VPS9, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

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

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiAL2CL_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: Q60I27
Secondary accession number(s): Q32MA1
, Q6AI56, Q6ZNC5, Q6ZNC7, Q6ZTL4, Q86YD2, Q8N9U1, Q8NAL7
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: November 23, 2004
Last modified: June 2, 2021
This is version 131 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  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