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UniProtKB - P43034 (LIS1_HUMAN)

Entry version 213 (07 Apr 2021)
Sequence version 2 (23 Jan 2007)
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Protein

Platelet-activating factor acetylhydrolase IB subunit beta

Gene

PAFAH1B1

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

Regulatory subunit (beta subunit) of the cytosolic type I platelet-activating factor (PAF) acetylhydrolase (PAF-AH (I)), an enzyme that catalyzes the hydrolyze of the acetyl group at the sn-2 position of PAF and its analogs and participates to the PAF inactivation. Regulates the PAF-AH (I) activity in a catalytic dimer composition-dependent manner (By similarity). Required for proper activation of Rho GTPases and actin polymerization at the leading edge of locomoting cerebellar neurons and postmigratory hippocampal neurons in response to calcium influx triggered via NMDA receptors (By similarity). Positively regulates the activity of the minus-end directed microtubule motor protein dynein. May enhance dynein-mediated microtubule sliding by targeting dynein to the microtubule plus end. Required for several dynein- and microtubule-dependent processes such as the maintenance of Golgi integrity, the peripheral transport of microtubule fragments and the coupling of the nucleus and centrosome. Required during brain development for the proliferation of neuronal precursors and the migration of newly formed neurons from the ventricular/subventricular zone toward the cortical plate. Neuronal migration involves a process called nucleokinesis, whereby migrating cells extend an anterior process into which the nucleus subsequently translocates. During nucleokinesis dynein at the nuclear surface may translocate the nucleus towards the centrosome by exerting force on centrosomal microtubules. May also play a role in other forms of cell locomotion including the migration of fibroblasts during wound healing. Required for dynein recruitment to microtubule plus ends and BICD2-bound cargos (PubMed:22956769). May modulate the Reelin pathway through interaction of the PAF-AH (I) catalytic dimer with VLDLR (By similarity).By similarity2 Publications

Miscellaneous

Originally the subunits of the type I platelet-activating factor (PAF) acetylhydrolase was named alpha (PAFAH1B1), beta (PAFAH1B2) and gamma (PAFAH1B3) (By similarity) (Ref. 4). Now these subunits have been renamed beta (PAFAH1B1), alpha2 (PAFAH1B2) and alpha1 (PAFAH1B3) respectively (By similarity).1 PublicationBy similarity

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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

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

Molecular functionDevelopmental protein
Biological processCell cycle, Cell division, Differentiation, Lipid degradation, Lipid metabolism, Mitosis, Neurogenesis, Transport

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P43034

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813, Separation of Sister Chromatids
R-HSA-2500257, Resolution of Sister Chromatid Cohesion
R-HSA-2565942, Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259, Loss of Nlp from mitotic centrosomes
R-HSA-380270, Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284, Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320, Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912, Anchoring of the basal body to the plasma membrane
R-HSA-5663220, RHO GTPases Activate Formins
R-HSA-6811436, COPI-independent Golgi-to-ER retrograde traffic
R-HSA-68877, Mitotic Prometaphase
R-HSA-8854518, AURKA Activation by TPX2
R-HSA-9648025, EML4 and NUDC in mitotic spindle formation

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P43034

SIGNOR Signaling Network Open Resource

More...SIGNORi		P43034

<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:
Platelet-activating factor acetylhydrolase IB subunit betaUniRule annotationCurated
Alternative name(s):
Lissencephaly-1 proteinUniRule annotation
Short name:
LIS-1UniRule annotation
PAF acetylhydrolase 45 kDa subunitUniRule annotation
Short name:
PAF-AH 45 kDa subunitUniRule annotation
PAF-AH alphaUniRule annotation
Short name:
PAFAH alphaUniRule annotation
<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:PAFAH1B1UniRule annotationImported
Synonyms:LIS1UniRule annotation, MDCR, MDS, PAFAHA
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 17

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:8574, PAFAH1B1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601545, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P43034

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000007168.12

<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, Cytoskeleton, Membrane, Microtubule, Nucleus

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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Lissencephaly 1 (LIS1)5 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA classical lissencephaly. It is characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. The cortex is abnormally thick and poorly organized with 4 primitive layers. Associated with enlarged and dysmorphic ventricles and often hypoplasia of the corpus callosum.
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_01539831F → S in LIS1. 1 PublicationCorresponds to variant dbSNP:rs121434486EnsemblClinVar.1
Natural variantiVAR_007724149H → R in LIS1; abrogates interaction with NDE1 and reduces neuronal migration in vitro. 3 PublicationsCorresponds to variant dbSNP:rs121434482EnsemblClinVar.1
Natural variantiVAR_015399162G → S in LIS1. 1 PublicationCorresponds to variant dbSNP:rs121434487EnsemblClinVar.1
Natural variantiVAR_037301277H → P in LIS1. 1 PublicationCorresponds to variant dbSNP:rs121434490EnsemblClinVar.1
Natural variantiVAR_015400317D → H in LIS1; reduces neuronal migration in vitro. 2 PublicationsCorresponds to variant dbSNP:rs121434485EnsemblClinVar.1
Subcortical band heterotopia (SBH)2 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionSBH is a mild brain malformation of the lissencephaly spectrum. It is characterized by bilateral and symmetric plates or bands of gray matter found in the central white matter between the cortex and cerebral ventricles, cerebral convolutions usually appearing normal.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010203169S → P in SBH; abrogates interaction with NDE1 and reduces neuronal migration in vitro. 3 PublicationsCorresponds to variant dbSNP:rs121434484EnsemblClinVar.1
Natural variantiVAR_037300241R → P in SBH; somatic mosaicism in 18% of lymphocytes and 21% of hair root cells. 1 PublicationCorresponds to variant dbSNP:rs121434488EnsemblClinVar.1
Miller-Dieker lissencephaly syndrome (MDLS)
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA contiguous gene deletion syndrome of chromosome 17p13.3, characterized by classical lissencephaly and distinct facial features. Additional congenital malformations can be part of the condition.
Related information in OMIM

Keywords - Diseasei

Disease variant, Lissencephaly

Organism-specific databases

DisGeNET

More...DisGeNETi		5048

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		PAFAH1B1

MalaCards human disease database

More...MalaCardsi		PAFAH1B1
MIMi247200, phenotype
607432, phenotype

Open Targets

More...OpenTargetsi		ENSG00000007168

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

More...Orphaneti		217385, 17p13.3 microduplication syndrome
95232, Lissencephaly due to LIS1 mutation
531, Miller-Dieker syndrome
99796, Subcortical band heterotopia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA32905

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P43034, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PAFAH1B1

Domain mapping of disease mutations (DMDM)

More...DMDMi		1170794

<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_00000510611 – 410Platelet-activating factor acetylhydrolase IB subunit betaAdd BLAST410

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 residuei53N6-acetyllysineCombined sources1
Modified residuei109PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-103
CPTAC-104

Encyclopedia of Proteome Dynamics

More...EPDi		P43034

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P43034

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P43034

MaxQB - The MaxQuant DataBase

More...MaxQBi		P43034

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

More...PaxDbi		P43034

PeptideAtlas

More...PeptideAtlasi		P43034

PRoteomics IDEntifications database

More...PRIDEi		P43034

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		55575 [P43034-1]
55576 [P43034-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P43034

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P43034

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

More...PhosphoSitePlusi		P43034

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P43034

<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

Fairly ubiquitous expression in both the frontal and occipital areas of the brain.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000007168, Expressed in testis and 246 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P43034, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P43034, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000007168, Low tissue specificity

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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about 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

Component of the cytosolic PAF-AH (I) heterotetrameric enzyme, which is composed of PAFAH1B1 (beta), PAFAH1B2 (alpha2) and PAFAH1B3 (alpha1) subunits. The catalytic activity of the enzyme resides in the alpha1 (PAFAH1B3) and alpha2 (PAFAH1B2) subunits, whereas the beta subunit (PAFAH1B1) has regulatory activity. Trimer formation is not essential for the catalytic activity.

Interacts with the catalytic dimer of PAF-AH (I) heterotetrameric enzyme: interacts with PAFAH1B2 homodimer (alpha2/alpha2 homodimer), PAFAH1B3 homodimer (alpha1/alpha1 homodimer) and PAFAH1B2-PAFAH1B3 heterodimer (alpha2/alpha1 heterodimer) (By similarity).

Interacts with IQGAP1, KATNB1 and NUDC.

Interacts with DAB1 when DAB1 is phosphorylated in response to RELN/reelin signaling (By similarity). Can self-associate.

Interacts with DCX, dynein, dynactin, NDE1, NDEL1 and RSN.

Interacts with DISC1, and this interaction is enhanced by NDEL1.

Interacts with INTS13.

Interacts with DCDC1 (PubMed:22159412).

By similarity8 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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111085, 128 interactors

Database of interacting proteins

More...DIPi		DIP-35691N

Protein interaction database and analysis system

More...IntActi		P43034, 41 interactors

Molecular INTeraction database

More...MINTi		P43034

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000380378

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P43034, protein

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

3D structure databases

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

More...SMRi		P43034

Database of comparative protein structure models

More...ModBasei		Search...

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<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>Domaini7 – 39LisHUniRule annotationAdd BLAST33
<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>Repeati106 – 147WD 1Add BLAST42
Repeati148 – 187WD 2Add BLAST40
Repeati190 – 229WD 3Add BLAST40
Repeati232 – 271WD 4Add BLAST40
Repeati274 – 333WD 5Add BLAST60
Repeati336 – 377WD 6Add BLAST42
Repeati378 – 410WD 7Add BLAST33

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 102Interaction with NDEL1UniRule annotationAdd BLAST102
Regioni1 – 66Interaction with NDE1UniRule annotationAdd BLAST66
Regioni1 – 38Required for self-association and interaction with PAFAH1B2 and PAFAH1B3UniRule annotationAdd BLAST38
Regioni83 – 410Interaction with dynein and dynactinAdd BLAST328
Regioni367 – 409Interaction with DCX1 PublicationAdd BLAST43
Regioni388 – 410Interaction with NDEL1UniRule annotationAdd BLAST23

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 coili56 – 82UniRule annotationAdd BLAST27

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

Dimerization mediated by the LisH domain may be required to activate dynein.UniRule annotation

<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 WD repeat LIS1/nudF family.UniRule annotation

Keywords - Domaini

Coiled coil, Repeat, WD repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0295, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155039

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P43034

Identification of Orthologs from Complete Genome Data

More...OMAi		DAHGHFV

Database for complete collections of gene phylogenies

More...PhylomeDBi		P43034

TreeFam database of animal gene trees

More...TreeFami		TF105741

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 1 hit

HAMAP database of protein families

More...HAMAPi		MF_03141, lis1, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR017252, Dynein_regulator_LIS1
IPR020472, G-protein_beta_WD-40_rep
IPR037190, LIS1_N
IPR006594, LisH
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR019775, WD40_repeat_CS
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF08513, LisH, 1 hit
PF00400, WD40, 7 hits

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF037647, Dynein_regulator_Lis1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00320, GPROTEINBRPT

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00667, LisH, 1 hit
SM00320, WD40, 7 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF109925, SSF109925, 1 hit
SSF50978, SSF50978, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50896, LISH, 1 hit
PS00678, WD_REPEATS_1, 4 hits
PS50082, WD_REPEATS_2, 7 hits
PS50294, WD_REPEATS_REGION, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

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

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

This entry has 2 described isoforms and 8 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P43034-1) [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
MVLSQRQRDE LNRAIADYLR SNGYEEAYSV FKKEAELDVN EELDKKYAGL 
        60         70         80         90        100
LEKKWTSVIR LQKKVMELES KLNEAKEEFT SGGPLGQKRD PKEWIPRPPE 
       110        120        130        140        150
KYALSGHRSP VTRVIFHPVF SVMVSASEDA TIKVWDYETG DFERTLKGHT 
       160        170        180        190        200
DSVQDISFDH SGKLLASCSA DMTIKLWDFQ GFECIRTMHG HDHNVSSVAI 
       210        220        230        240        250
MPNGDHIVSA SRDKTIKMWE VQTGYCVKTF TGHREWVRMV RPNQDGTLIA 
       260        270        280        290        300
SCSNDQTVRV WVVATKECKA ELREHEHVVE CISWAPESSY SSISEATGSE 
       310        320        330        340        350
TKKSGKPGPF LLSGSRDKTI KMWDVSTGMC LMTLVGHDNW VRGVLFHSGG 
       360        370        380        390        400
KFILSCADDK TLRVWDYKNK RCMKTLNAHE HFVTSLDFHK TAPYVVTGSV 
       410
DQTVKVWECR
Length:410
Mass (Da):46,638
Last modified:January 23, 2007 - 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:i3AB68D2641BA31C9
GO
Isoform 2 (identifier: P43034-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     12-64: Missing.
     134-170: Missing.
     237-237: V → I
     238-410: Missing.

Show »
Length:147
Mass (Da):16,869
Checksum:iB594509D159C7657
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
A0A6Q8PFU3A0A6Q8PFU3_HUMAN
Platelet-activating factor acetylhy...
PAFAH1B1 LIS1
428Annotation score:

Annotation score:4 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PG63A0A6Q8PG63_HUMAN
Platelet-activating factor acetylhy...
PAFAH1B1
346Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A6Q8PFT2A0A6Q8PFT2_HUMAN
Platelet-activating factor acetylhy...
PAFAH1B1
345Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
I3L495I3L495_HUMAN
Platelet-activating factor acetylhy...
PAFAH1B1
82Annotation 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>
A0A6Q8PH33A0A6Q8PH33_HUMAN
Platelet-activating factor acetylhy...
PAFAH1B1
127Annotation 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>
I3L3N5I3L3N5_HUMAN
Platelet-activating factor acetylhy...
PAFAH1B1
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>
I3L384I3L384_HUMAN
Platelet-activating factor acetylhy...
PAFAH1B1
14Annotation 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>
A0A6Q8PGF8A0A6Q8PGF8_HUMAN
Platelet-activating factor acetylhy...
PAFAH1B1
47Annotation 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 AAA02882 differs from that shown. Chimeric cDNA.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 conflicti21S → P in AAL34972 (Ref. 3) Curated1
Sequence conflicti21S → P in AAL34973 (Ref. 3) Curated1
Sequence conflicti93E → G in AAL34973 (Ref. 3) Curated1
Sequence conflicti177W → R in AAL34973 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01539831F → S in LIS1. 1 PublicationCorresponds to variant dbSNP:rs121434486EnsemblClinVar.1
Natural variantiVAR_007724149H → R in LIS1; abrogates interaction with NDE1 and reduces neuronal migration in vitro. 3 PublicationsCorresponds to variant dbSNP:rs121434482EnsemblClinVar.1
Natural variantiVAR_015399162G → S in LIS1. 1 PublicationCorresponds to variant dbSNP:rs121434487EnsemblClinVar.1
Natural variantiVAR_010203169S → P in SBH; abrogates interaction with NDE1 and reduces neuronal migration in vitro. 3 PublicationsCorresponds to variant dbSNP:rs121434484EnsemblClinVar.1
Natural variantiVAR_037300241R → P in SBH; somatic mosaicism in 18% of lymphocytes and 21% of hair root cells. 1 PublicationCorresponds to variant dbSNP:rs121434488EnsemblClinVar.1
Natural variantiVAR_037301277H → P in LIS1. 1 PublicationCorresponds to variant dbSNP:rs121434490EnsemblClinVar.1
Natural variantiVAR_015400317D → H in LIS1; reduces neuronal migration in vitro. 2 PublicationsCorresponds to variant dbSNP:rs121434485EnsemblClinVar.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_01937612 – 64Missing in isoform 2. 1 PublicationAdd BLAST53
Alternative sequenceiVSP_019377134 – 170Missing in isoform 2. 1 PublicationAdd BLAST37
Alternative sequenceiVSP_019378237V → I in isoform 2. 1 Publication1
Alternative sequenceiVSP_019379238 – 410Missing in isoform 2. 1 PublicationAdd BLAST173

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
L13385 mRNA Translation: AAA02880.1
L13386 mRNA Translation: AAA02881.1
L13387 mRNA Translation: AAA02882.1 Sequence problems.
U72342 U72341 Genomic DNA Translation: AAC51111.1
AF208837 mRNA Translation: AAL34972.1
AF208838 mRNA Translation: AAL34973.1
AF400434 mRNA Translation: AAK92483.1
AK313078 mRNA Translation: BAG35904.1
BX538346 mRNA Translation: CAD98141.1
CH471108 Genomic DNA Translation: EAW90536.1
BC064638 mRNA Translation: AAH64638.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS32528.1 [P43034-1]

Protein sequence database of the Protein Information Resource

More...PIRi		S36113

NCBI Reference Sequences

More...RefSeqi		NP_000421.1, NM_000430.3 [P43034-1]
XP_016880188.1, XM_017024699.1
XP_016880189.1, XM_017024700.1
XP_016880190.1, XM_017024701.1 [P43034-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000397195; ENSP00000380378; ENSG00000007168 [P43034-1]
ENST00000675202; ENSP00000502843; ENSG00000007168 [P43034-1]
ENST00000675331; ENSP00000502031; ENSG00000007168 [P43034-1]
ENST00000675390; ENSP00000501969; ENSG00000007168 [P43034-1]
ENST00000676098; ENSP00000502735; ENSG00000007168 [P43034-1]
ENST00000676188; ENSP00000502577; ENSG00000007168 [P43034-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5048

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5048

UCSC genome browser

More...UCSCi		uc002fuw.5, human [P43034-1]

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
L13385 mRNA Translation: AAA02880.1
L13386 mRNA Translation: AAA02881.1
L13387 mRNA Translation: AAA02882.1 Sequence problems.
U72342 U72341 Genomic DNA Translation: AAC51111.1
AF208837 mRNA Translation: AAL34972.1
AF208838 mRNA Translation: AAL34973.1
AF400434 mRNA Translation: AAK92483.1
AK313078 mRNA Translation: BAG35904.1
BX538346 mRNA Translation: CAD98141.1
CH471108 Genomic DNA Translation: EAW90536.1
BC064638 mRNA Translation: AAH64638.1
CCDSiCCDS32528.1 [P43034-1]
PIRiS36113
RefSeqiNP_000421.1, NM_000430.3 [P43034-1]
XP_016880188.1, XM_017024699.1
XP_016880189.1, XM_017024700.1
XP_016880190.1, XM_017024701.1 [P43034-1]

3D structure databases

SMRiP43034
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi111085, 128 interactors
DIPiDIP-35691N
IntActiP43034, 41 interactors
MINTiP43034
STRINGi9606.ENSP00000380378

PTM databases

iPTMnetiP43034
MetOSiteiP43034
PhosphoSitePlusiP43034
SwissPalmiP43034

Genetic variation databases

BioMutaiPAFAH1B1
DMDMi1170794

Proteomic databases

CPTACiCPTAC-103
CPTAC-104
EPDiP43034
jPOSTiP43034
MassIVEiP43034
MaxQBiP43034
PaxDbiP43034
PeptideAtlasiP43034
PRIDEiP43034
ProteomicsDBi55575 [P43034-1]
55576 [P43034-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3850, 303 antibodies

Genome annotation databases

EnsembliENST00000397195; ENSP00000380378; ENSG00000007168 [P43034-1]
ENST00000675202; ENSP00000502843; ENSG00000007168 [P43034-1]
ENST00000675331; ENSP00000502031; ENSG00000007168 [P43034-1]
ENST00000675390; ENSP00000501969; ENSG00000007168 [P43034-1]
ENST00000676098; ENSP00000502735; ENSG00000007168 [P43034-1]
ENST00000676188; ENSP00000502577; ENSG00000007168 [P43034-1]
GeneIDi5048
KEGGihsa:5048
UCSCiuc002fuw.5, human [P43034-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5048
DisGeNETi5048

GeneCards: human genes, protein and diseases

More...GeneCardsi		PAFAH1B1
GeneReviewsiPAFAH1B1
HGNCiHGNC:8574, PAFAH1B1
HPAiENSG00000007168, Low tissue specificity
MalaCardsiPAFAH1B1
MIMi247200, phenotype
601545, gene
607432, phenotype
neXtProtiNX_P43034
OpenTargetsiENSG00000007168
Orphaneti217385, 17p13.3 microduplication syndrome
95232, Lissencephaly due to LIS1 mutation
531, Miller-Dieker syndrome
99796, Subcortical band heterotopia
PharmGKBiPA32905
VEuPathDBiHostDB:ENSG00000007168.12

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0295, Eukaryota
GeneTreeiENSGT00940000155039
InParanoidiP43034
OMAiDAHGHFV
PhylomeDBiP43034
TreeFamiTF105741

Enzyme and pathway databases

PathwayCommonsiP43034
ReactomeiR-HSA-141444, Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
R-HSA-2467813, Separation of Sister Chromatids
R-HSA-2500257, Resolution of Sister Chromatid Cohesion
R-HSA-2565942, Regulation of PLK1 Activity at G2/M Transition
R-HSA-380259, Loss of Nlp from mitotic centrosomes
R-HSA-380270, Recruitment of mitotic centrosome proteins and complexes
R-HSA-380284, Loss of proteins required for interphase microtubule organization from the centrosome
R-HSA-380320, Recruitment of NuMA to mitotic centrosomes
R-HSA-5620912, Anchoring of the basal body to the plasma membrane
R-HSA-5663220, RHO GTPases Activate Formins
R-HSA-6811436, COPI-independent Golgi-to-ER retrograde traffic
R-HSA-68877, Mitotic Prometaphase
R-HSA-8854518, AURKA Activation by TPX2
R-HSA-9648025, EML4 and NUDC in mitotic spindle formation
SignaLinkiP43034
SIGNORiP43034

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5048, 743 hits in 1001 CRISPR screens

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

More...ChiTaRSi		PAFAH1B1, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		PAFAH1B1

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

More...GenomeRNAii		5048
PharosiP43034, Tbio

Protein Ontology

More...PROi		PR:P43034
RNActiP43034, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000007168, Expressed in testis and 246 other tissues
ExpressionAtlasiP43034, baseline and differential
GenevisibleiP43034, HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
HAMAPiMF_03141, lis1, 1 hit
InterProiView protein in InterPro
IPR017252, Dynein_regulator_LIS1
IPR020472, G-protein_beta_WD-40_rep
IPR037190, LIS1_N
IPR006594, LisH
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR001680, WD40_repeat
IPR019775, WD40_repeat_CS
IPR017986, WD40_repeat_dom
IPR036322, WD40_repeat_dom_sf
PfamiView protein in Pfam
PF08513, LisH, 1 hit
PF00400, WD40, 7 hits
PIRSFiPIRSF037647, Dynein_regulator_Lis1, 1 hit
PRINTSiPR00320, GPROTEINBRPT
SMARTiView protein in SMART
SM00667, LisH, 1 hit
SM00320, WD40, 7 hits
SUPFAMiSSF109925, SSF109925, 1 hit
SSF50978, SSF50978, 1 hit
PROSITEiView protein in PROSITE
PS50896, LISH, 1 hit
PS00678, WD_REPEATS_1, 4 hits
PS50082, WD_REPEATS_2, 7 hits
PS50294, WD_REPEATS_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

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

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiLIS1_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: P43034
Secondary accession number(s): B2R7Q7, Q8WZ88, Q8WZ89
<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: November 1, 1995
Last sequence update: January 23, 2007
Last modified: April 7, 2021
This is version 213 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

Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: 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
  5. SIMILARITY comments
    Index of protein domains and families
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