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Entry version 146 (16 Oct 2019)
Sequence version 1 (01 Nov 1997)
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Protein

Forkhead box protein D1

Gene

FOXD1

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

Transcription factor involved in regulation of gene expression in a variety of processes, including formation of positional identity in the developing retina, regionalization of the optic chiasm, morphogenesis of the kidney, and neuralization of ectodermal cells (By similarity). Involved in transcriptional activation of PGF and C3 genes (PubMed:27805902).By similarity1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi124 – 215Fork-headPROSITE-ProRule annotationAdd BLAST92

<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 functionDNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

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

More...
SignaLinki
Q16676

<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:
Forkhead box protein D1
Alternative name(s):
Forkhead-related protein FKHL8
Forkhead-related transcription factor 4
Short name:
FREAC-4
<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:FOXD1
Synonyms:FKHL8, FREAC4
<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 5

Organism-specific databases

Human Gene Nomenclature Database

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HGNCi
HGNC:3802 FOXD1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
601091 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q16676

<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

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
2297

Open Targets

More...
OpenTargetsi
ENSG00000251493

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA28219

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q16676

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
FOXD1

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2494490

<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_00000918111 – 465Forkhead box protein D1Add BLAST465

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q16676

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q16676

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

More...
PaxDbi
Q16676

PeptideAtlas

More...
PeptideAtlasi
Q16676

PRoteomics IDEntifications database

More...
PRIDEi
Q16676

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
61032

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q16676

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

More...
PhosphoSitePlusi
Q16676

<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

More...
Bgeei
ENSG00000251493 Expressed in 116 organ(s), highest expression level in pigmented layer of retina

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q16676 HS

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
108586, 3 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000481581

<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
Q16676

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

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 biasi26 – 34Poly-Glu9
Compositional biasi39 – 43Poly-Gly5
Compositional biasi52 – 57Poly-Arg6
Compositional biasi69 – 72Poly-Glu4
Compositional biasi73 – 76Poly-Asp4
Compositional biasi97 – 113Poly-GlyAdd BLAST17
Compositional biasi231 – 234Poly-Ala4
Compositional biasi252 – 256Poly-Ala5
Compositional biasi259 – 266Poly-Pro8
Compositional biasi293 – 303Poly-AlaAdd BLAST11
Compositional biasi309 – 315Poly-Pro7
Compositional biasi375 – 390Poly-AlaAdd BLAST16
Compositional biasi428 – 434Poly-Ala7

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG2294 Eukaryota
COG5025 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000161645

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q16676

KEGG Orthology (KO)

More...
KOi
K09397

Identification of Orthologs from Complete Genome Data

More...
OMAi
EVAQMHD

Database of Orthologous Groups

More...
OrthoDBi
1270467at2759

Family and domain databases

Conserved Domains Database

More...
CDDi
cd00059 FH, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.10.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR001766 Fork_head_dom
IPR018122 TF_fork_head_CS_1
IPR030456 TF_fork_head_CS_2
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00250 Forkhead, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR00053 FORKHEAD

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00339 FH, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF46785 SSF46785, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00657 FORK_HEAD_1, 1 hit
PS00658 FORK_HEAD_2, 1 hit
PS50039 FORK_HEAD_3, 1 hit

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

<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.

Q16676-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MTLSTEMSDA SGLAEETDID VVGEGEDEED EEEEDDDEGG GGGPRLAVPA
60 70 80 90 100
QRRRRRRSYA GEDELEDLEE EEDDDDILLA PPAGGSPAPP GPAPAAGAGA
110 120 130 140 150
GGGGGGGGAG GGGSAGSGAK NPLVKPPYSY IALITMAILQ SPKKRLTLSE
160 170 180 190 200
ICEFISGRFP YYREKFPAWQ NSIRHNLSLN DCFVKIPREP GNPGKGNYWT
210 220 230 240 250
LDPESADMFD NGSFLRRRKR FKRQPLLPPN AAAAESLLLR GAGAAGGAGD
260 270 280 290 300
PAAAAALFPP APPPPPHAYG YGPYGCGYGL QLPPYAPPSA LFAAAAAAAA
310 320 330 340 350
AAAFHPHSPP PPPPPHGAAA ELARTAFGYR PHPLGAALPG PLPASAAKAG
360 370 380 390 400
GPGASALARS PFSIESIIGG SLGPAAAAAA AAQAAAAAQA SPSPSPVAAP
410 420 430 440 450
PAPGSSGGGC AAQAAVGPAA ALTRSLVAAA AAAASSVSSS AALGTLHQGT
460
ALSSVENFTA RISNC
Length:465
Mass (Da):46,140
Last modified:November 1, 1997 - 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:iD3E7854909CCBFAE
GO

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_07759655R → P1 PublicationCorresponds to variant dbSNP:rs775281482Ensembl.1
Natural variantiVAR_07759788A → G1 PublicationCorresponds to variant dbSNP:rs7705335Ensembl.1
Natural variantiVAR_077598228P → L1 PublicationCorresponds to variant dbSNP:rs562222810Ensembl.1
Natural variantiVAR_077599326A → T1 PublicationCorresponds to variant dbSNP:rs552595262Ensembl.1
Natural variantiVAR_077600336A → V1 PublicationCorresponds to variant dbSNP:rs1039708369Ensembl.1
Natural variantiVAR_077601352P → R1 PublicationCorresponds to variant dbSNP:rs951256776Ensembl.1
Natural variantiVAR_077602356A → G Polymorphism; decreased activation of transcription from PGF and C3 promoters. 1 PublicationCorresponds to variant dbSNP:rs917127030Ensembl.1
Natural variantiVAR_077603364I → M Polymorphism; increased activation of transcription from the C3 promoter but no effect on the PGF promoter. 1 PublicationCorresponds to variant dbSNP:rs992724147Ensembl.1
Natural variantiVAR_077604383 – 387Missing 1 Publication5
Natural variantiVAR_077605396P → L1 PublicationCorresponds to variant dbSNP:rs540644822Ensembl.1
Natural variantiVAR_077606437V → I1 Publication1
Natural variantiVAR_077607442A → S1 Publication1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
U59831 Genomic DNA Translation: AAC50660.1
U59832 mRNA Translation: AAC50661.1
U13222 mRNA Translation: AAA92039.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS75259.1

Protein sequence database of the Protein Information Resource

More...
PIRi
G02738
S51627

NCBI Reference Sequences

More...
RefSeqi
NP_004463.1, NM_004472.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000615637; ENSP00000481581; ENSG00000251493

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
2297

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:2297

UCSC genome browser

More...
UCSCi
uc032uyj.2 human

Keywords - Coding sequence diversityi

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
U59831 Genomic DNA Translation: AAC50660.1
U59832 mRNA Translation: AAC50661.1
U13222 mRNA Translation: AAA92039.1
CCDSiCCDS75259.1
PIRiG02738
S51627
RefSeqiNP_004463.1, NM_004472.2

3D structure databases

SMRiQ16676
ModBaseiSearch...

Protein-protein interaction databases

BioGridi108586, 3 interactors
STRINGi9606.ENSP00000481581

PTM databases

iPTMnetiQ16676
PhosphoSitePlusiQ16676

Polymorphism and mutation databases

BioMutaiFOXD1
DMDMi2494490

Proteomic databases

jPOSTiQ16676
MassIVEiQ16676
PaxDbiQ16676
PeptideAtlasiQ16676
PRIDEiQ16676
ProteomicsDBi61032

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
2297

Genome annotation databases

EnsembliENST00000615637; ENSP00000481581; ENSG00000251493
GeneIDi2297
KEGGihsa:2297
UCSCiuc032uyj.2 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
2297
DisGeNETi2297

GeneCards: human genes, protein and diseases

More...
GeneCardsi
FOXD1
HGNCiHGNC:3802 FOXD1
MIMi601091 gene
neXtProtiNX_Q16676
OpenTargetsiENSG00000251493
PharmGKBiPA28219

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2294 Eukaryota
COG5025 LUCA
GeneTreeiENSGT00940000161645
InParanoidiQ16676
KOiK09397
OMAiEVAQMHD
OrthoDBi1270467at2759

Enzyme and pathway databases

SignaLinkiQ16676

Miscellaneous databases

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

More...
ChiTaRSi
FOXD1 human

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

More...
GenomeRNAii
2297
PharosiQ16676

Protein Ontology

More...
PROi
PR:Q16676

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000251493 Expressed in 116 organ(s), highest expression level in pigmented layer of retina
GenevisibleiQ16676 HS

Family and domain databases

CDDicd00059 FH, 1 hit
Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR001766 Fork_head_dom
IPR018122 TF_fork_head_CS_1
IPR030456 TF_fork_head_CS_2
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF00250 Forkhead, 1 hit
PRINTSiPR00053 FORKHEAD
SMARTiView protein in SMART
SM00339 FH, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS00657 FORK_HEAD_1, 1 hit
PS00658 FORK_HEAD_2, 1 hit
PS50039 FORK_HEAD_3, 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 nameiFOXD1_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: Q16676
Secondary accession number(s): Q12949
<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: November 1, 1997
Last sequence update: November 1, 1997
Last modified: October 16, 2019
This is version 146 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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