Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Alsin

Gene

ALS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).By similarity

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB
  • protein serine/threonine kinase activator activity Source: UniProtKB
  • Rab GTPase binding Source: UniProtKB
  • Rab guanyl-nucleotide exchange factor activity Source: UniProtKB
  • Rac guanyl-nucleotide exchange factor activity Source: UniProtKB
  • Ran guanyl-nucleotide exchange factor activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Alsin
Alternative name(s):
Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein
Amyotrophic lateral sclerosis 2 protein
Gene namesi
Name:ALS2
Synonyms:ALS2CR6, KIAA1563
OrganismiHomo sapiens (Human)Imported
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:443. ALS2.

Subcellular locationi

GO - Cellular componenti

  • axon Source: Ensembl
  • centrosome Source: MGI
  • cytosol Source: UniProtKB
  • dendrite Source: UniProtKB
  • dendritic spine Source: Ensembl
  • early endosome Source: UniProtKB
  • growth cone Source: UniProtKB
  • lamellipodium Source: UniProtKB
  • membrane Source: Ensembl
  • neuronal cell body Source: Ensembl
  • postsynaptic density Source: Ensembl
  • protein complex Source: UniProtKB
  • ruffle Source: UniProtKB
  • vesicle Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Amyotrophic lateral sclerosis 2 (ALS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
See also OMIM:205100
Juvenile primary lateral sclerosis (JPLS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons while the lower neurons are unaffected.
See also OMIM:606353
Infantile-onset ascending spastic paralysis (IAHSP)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionCharacterized by progressive spasticity and weakness of limbs.
See also OMIM:607225

Keywords - Diseasei

Amyotrophic lateral sclerosis, Neurodegeneration

Organism-specific databases

DisGeNETi57679.
MalaCardsiALS2.
MIMi205100. phenotype.
606353. phenotype.
607225. phenotype.
OpenTargetsiENSG00000003393.
Orphaneti293168. Infantile-onset ascending hereditary spastic paralysis.
300605. Juvenile amyotrophic lateral sclerosis.
247604. Juvenile primary lateral sclerosis.
PharmGKBiPA24732.

Polymorphism and mutation databases

BioMutaiALS2.
DMDMi296434394.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000809031 – 1657AlsinAdd BLAST1657

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei465PhosphoserineCombined sources1
Modified residuei466PhosphoserineCombined sources1
Modified residuei483PhosphoserineCombined sources1
Modified residuei492PhosphoserineCombined sources1
Modified residuei510PhosphothreonineBy similarity1
Modified residuei533N6-acetyllysineCombined sources1
Modified residuei1335PhosphoserineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiQ96Q42.
MaxQBiQ96Q42.
PaxDbiQ96Q42.
PeptideAtlasiQ96Q42.
PRIDEiQ96Q42.

PTM databases

iPTMnetiQ96Q42.
PhosphoSitePlusiQ96Q42.

Expressioni

Gene expression databases

BgeeiENSG00000003393.
CleanExiHS_ALS2.
ExpressionAtlasiQ96Q42. baseline and differential.
GenevisibleiQ96Q42. HS.

Organism-specific databases

HPAiHPA046588.

Interactioni

Subunit structurei

Forms a heteromeric complex with ALS2CL. Interacts with ALS2CL.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
RAB5AP203392EBI-1044902,EBI-399437

GO - Molecular functioni

  • protein homodimerization activity Source: UniProtKB
  • Rab GTPase binding Source: UniProtKB

Protein-protein interaction databases

BioGridi121708. 8 interactors.
IntActiQ96Q42. 4 interactors.
MINTiMINT-1632128.
STRINGi9606.ENSP00000264276.

Structurei

3D structure databases

ProteinModelPortaliQ96Q42.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati59 – 108RCC1 1CuratedAdd BLAST50
Repeati109 – 167RCC1 2CuratedAdd BLAST59
Repeati169 – 218RCC1 3CuratedAdd BLAST50
Repeati525 – 576RCC1 4CuratedAdd BLAST52
Repeati578 – 627RCC1 5CuratedAdd BLAST50
Domaini690 – 885DHPROSITE-ProRule annotationAdd BLAST196
Domaini901 – 1007PHCuratedAdd BLAST107
Repeati1049 – 1071MORN 1Add BLAST23
Repeati1072 – 1094MORN 2Add BLAST23
Repeati1100 – 1122MORN 3Add BLAST23
Repeati1123 – 1145MORN 4Add BLAST23
Repeati1151 – 1173MORN 5Add BLAST23
Repeati1175 – 1197MORN 6Add BLAST23
Repeati1198 – 1220MORN 7Add BLAST23
Repeati1221 – 1244MORN 8Add BLAST24
Domaini1513 – 1657VPS9PROSITE-ProRule annotationAdd BLAST145

Sequence similaritiesi

Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
Contains 8 MORN repeats.Curated
Contains 1 PH domain.Curated
Contains 5 RCC1 repeats.PROSITE-ProRule annotationCurated
Contains 1 VPS9 domain.PROSITE-ProRule annotationCurated

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG0231. Eukaryota.
KOG1426. Eukaryota.
COG4642. LUCA.
GeneTreeiENSGT00730000110297.
HOVERGENiHBG037320.
InParanoidiQ96Q42.
KOiK04575.
OMAiDSYTEYC.
OrthoDBiEOG091G00CU.
PhylomeDBiQ96Q42.
TreeFamiTF331793.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.130.10.30. 2 hits.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR003409. MORN.
IPR011993. PH_dom-like.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
IPR003123. VPS9.
[Graphical view]
PfamiPF02493. MORN. 8 hits.
PF00415. RCC1. 4 hits.
PF00621. RhoGEF. 1 hit.
PF02204. VPS9. 1 hit.
[Graphical view]
PRINTSiPR00633. RCCNDNSATION.
SMARTiSM00698. MORN. 8 hits.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF50985. SSF50985. 2 hits.
PROSITEiPS50010. DH_2. 1 hit.
PS00626. RCC1_2. 2 hits.
PS50012. RCC1_3. 5 hits.
PS51205. VPS9. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 11 Publication (identifier: Q96Q42-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MDSKKRSSTE AEGSKERGLV HIWQAGSFPI TPERLPGWGG KTVLQAALGV
60 70 80 90 100
KHGVLLTEDG EVYSFGTLPW RSGPVEICPS SPILENALVG QYVITVATGS
110 120 130 140 150
FHSGAVTDNG VAYMWGENSA GQCAVANQQY VPEPNPVSIA DSEASPLLAV
160 170 180 190 200
RILQLACGEE HTLALSISRE IWAWGTGCQL GLITTAFPVT KPQKVEHLAG
210 220 230 240 250
RVVLQVACGA FHSLALVQCL PSQDLKPVPE RCNQCSQLLI TMTDKEDHVI
260 270 280 290 300
ISDSHCCPLG VTLTESQAEN HASTALSPST ETLDRQEEVF ENTLVANDQS
310 320 330 340 350
VATELNAVSA QITSSDAMSS QQNVMGTTEI SSARNIPSYP DTQAVNEYLR
360 370 380 390 400
KLSDHSVRED SEHGEKPVPS QPLLEEAIPN LHSPPTTSTS ALNSLVVSCA
410 420 430 440 450
SAVGVRVAAT YEAGALSLKK VMNFYSTTPC ETGAQAGSSA IGPEGLKDSR
460 470 480 490 500
EEQVKQESMQ GKKSSSLVDI REEETEGGSR RLSLPGLLSQ VSPRLLRKAA
510 520 530 540 550
RVKTRTVVLT PTYSGEADAL LPSLRTEVWT WGKGKEGQLG HGDVLPRLQP
560 570 580 590 600
LCVKCLDGKE VIHLEAGGYH SLALTAKSQV YSWGSNTFGQ LGHSDFPTTV
610 620 630 640 650
PRLAKISSEN GVWSIAAGRD YSLFLVDTED FQPGLYYSGR QDPTEGDNLP
660 670 680 690 700
ENHSGSKTPV LLSCSKLGYI SRVTAGKDSY LALVDKNIMG YIASLHELAT
710 720 730 740 750
TERRFYSKLS DIKSQILRPL LSLENLGTTT TVQLLQEVAS RFSKLCYLIG
760 770 780 790 800
QHGASLSSFL HGVKEARSLV ILKHSSLFLD SYTEYCTSIT NFLVMGGFQL
810 820 830 840 850
LAKPAIDFLN KNQELLQDLS EVNDENTQLM EILNTLFFLP IRRLHNYAKV
860 870 880 890 900
LLKLATCFEV ASPEYQKLQD SSSCYECLAL HLGRKRKEAE YTLGFWKTFP
910 920 930 940 950
GKMTDSLRKP ERRLLCESSN RALSLQHAGR FSVNWFILFN DALVHAQFST
960 970 980 990 1000
HHVFPLATLW AEPLSEEAGG VNGLKITTPE EQFTLISSTP QEKTKWLRAI
1010 1020 1030 1040 1050
SQAVDQALRG MSDLPPYGSG SSVQRQEPPI SRSAKYTFYK DPRLKDATYD
1060 1070 1080 1090 1100
GRWLSGKPHG RGVLKWPDGK MYSGMFRNGL EDGYGEYRIP NKAMNKEDHY
1110 1120 1130 1140 1150
VGHWKEGKMC GQGVYSYASG EVFEGCFQDN MRHGHGLLRS GKLTSSSPSM
1160 1170 1180 1190 1200
FIGQWVMDKK AGYGVFDDIT RGEKYMGMWQ DDVCQGNGVV VTQFGLYYEG
1210 1220 1230 1240 1250
NFHLNKMMGN GVLLSEDDTI YEGEFSDDWT LSGKGTLTMP NGDYIEGYFS
1260 1270 1280 1290 1300
GEWGSGIKIT GTYFKPSLYE SDKDRPKVFR KLGNLAVPAD EKWKAVFDEC
1310 1320 1330 1340 1350
WRQLGCEGPG QGEVWKAWDN IAVALTTSRR QHRDSPEILS RSQTQTLESL
1360 1370 1380 1390 1400
EFIPQHVGAF SVEKYDDIRK YLIKACDTPL HPLGRLVETL VAVYRMTYVG
1410 1420 1430 1440 1450
VGANRRLLQE AVKEIKSYLK RIFQLVRFLF PELPEEGSTI PLSAPLPTER
1460 1470 1480 1490 1500
KSFCTGKSDS RSESPEPGYV VTSSGLLLPV LLPRLYPPLF MLYALDNDRE
1510 1520 1530 1540 1550
EDIYWECVLR LNKQPDIALL GFLGVQRKFW PATLSILGES KKVLPTTKDA
1560 1570 1580 1590 1600
CFASAVECLQ QISTTFTPSD KLKVIQQTFE EISQSVLASL HEDFLWSMDD
1610 1620 1630 1640 1650
LFPVFLYVVL RARIRNLGSE VHLIEDLMDP YLQHGEQGIM FTTLKACYYQ

IQREKLN
Length:1,657
Mass (Da):183,634
Last modified:May 18, 2010 - v2
Checksum:i0DF8AC7B259F255A
GO
Isoform 21 Publication (identifier: Q96Q42-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     372-396: PLLEEAIPNLHSPPTTSTSALNSLV → VPAQFYKIKVCLELNCMGFSLETLK
     397-1657: Missing.

Show »
Length:396
Mass (Da):42,629
Checksum:i31073E4152B67E08
GO
Isoform 3Curated (identifier: Q96Q42-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     785-807: YCTSITNFLVMGGFQLLAKPAID → QVSSPVSCSISAGLFCQGEQLLN
     808-1657: Missing.

Note: No experimental confirmation available.Curated
Show »
Length:807
Mass (Da):86,782
Checksum:i4F5438CF9A46844B
GO

Sequence cautioni

The sequence BAB13389 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti69P → L in AAL14103 (PubMed:11586297).Curated1
Sequence conflicti69P → L in BAB14362 (PubMed:14702039).Curated1
Sequence conflicti115W → C in AAH29174 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03674794I → V.Corresponds to variant rs3219154dbSNPEnsembl.1
Natural variantiVAR_015655102H → R.1 Publication1
Natural variantiVAR_036748159E → K.Corresponds to variant rs3219155dbSNPEnsembl.1
Natural variantiVAR_015656368V → M.4 PublicationsCorresponds to variant rs3219156dbSNPEnsembl.1
Natural variantiVAR_0367491255S → F.Corresponds to variant rs10206276dbSNPEnsembl.1
Natural variantiVAR_0156571406R → K.1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_050521372 – 396PLLEE…LNSLV → VPAQFYKIKVCLELNCMGFS LETLK in isoform 2. 2 PublicationsAdd BLAST25
Alternative sequenceiVSP_050522397 – 1657Missing in isoform 2. 2 PublicationsAdd BLAST1261
Alternative sequenceiVSP_050523785 – 807YCTSI…KPAID → QVSSPVSCSISAGLFCQGEQ LLN in isoform 3. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_050524808 – 1657Missing in isoform 3. 1 PublicationAdd BLAST850

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF391100 mRNA. Translation: AAL14103.1.
AB053305 mRNA. Translation: BAB69014.1.
AB053306 mRNA. Translation: BAB69015.1.
AB046783 mRNA. Translation: BAB13389.2. Different initiation.
AK023024 mRNA. Translation: BAB14362.1.
AC007242 Genomic DNA. Translation: AAX93181.1.
AC007279 Genomic DNA. Translation: AAY15058.1.
CH471063 Genomic DNA. Translation: EAW70291.1.
BC029174 mRNA. Translation: AAH29174.1.
CCDSiCCDS42800.1. [Q96Q42-1]
CCDS46492.1. [Q96Q42-2]
RefSeqiNP_001129217.1. NM_001135745.1. [Q96Q42-2]
NP_065970.2. NM_020919.3. [Q96Q42-1]
XP_006712717.1. XM_006712654.2. [Q96Q42-1]
UniGeneiHs.471096.
Hs.621812.
Hs.672073.

Genome annotation databases

EnsembliENST00000264276; ENSP00000264276; ENSG00000003393. [Q96Q42-1]
ENST00000467448; ENSP00000429223; ENSG00000003393. [Q96Q42-2]
GeneIDi57679.
KEGGihsa:57679.
UCSCiuc002uyo.4. human. [Q96Q42-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Alsod

ALS genetic mutations db

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF391100 mRNA. Translation: AAL14103.1.
AB053305 mRNA. Translation: BAB69014.1.
AB053306 mRNA. Translation: BAB69015.1.
AB046783 mRNA. Translation: BAB13389.2. Different initiation.
AK023024 mRNA. Translation: BAB14362.1.
AC007242 Genomic DNA. Translation: AAX93181.1.
AC007279 Genomic DNA. Translation: AAY15058.1.
CH471063 Genomic DNA. Translation: EAW70291.1.
BC029174 mRNA. Translation: AAH29174.1.
CCDSiCCDS42800.1. [Q96Q42-1]
CCDS46492.1. [Q96Q42-2]
RefSeqiNP_001129217.1. NM_001135745.1. [Q96Q42-2]
NP_065970.2. NM_020919.3. [Q96Q42-1]
XP_006712717.1. XM_006712654.2. [Q96Q42-1]
UniGeneiHs.471096.
Hs.621812.
Hs.672073.

3D structure databases

ProteinModelPortaliQ96Q42.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121708. 8 interactors.
IntActiQ96Q42. 4 interactors.
MINTiMINT-1632128.
STRINGi9606.ENSP00000264276.

PTM databases

iPTMnetiQ96Q42.
PhosphoSitePlusiQ96Q42.

Polymorphism and mutation databases

BioMutaiALS2.
DMDMi296434394.

Proteomic databases

EPDiQ96Q42.
MaxQBiQ96Q42.
PaxDbiQ96Q42.
PeptideAtlasiQ96Q42.
PRIDEiQ96Q42.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000264276; ENSP00000264276; ENSG00000003393. [Q96Q42-1]
ENST00000467448; ENSP00000429223; ENSG00000003393. [Q96Q42-2]
GeneIDi57679.
KEGGihsa:57679.
UCSCiuc002uyo.4. human. [Q96Q42-1]

Organism-specific databases

CTDi57679.
DisGeNETi57679.
GeneCardsiALS2.
GeneReviewsiALS2.
H-InvDBHIX0200249.
HGNCiHGNC:443. ALS2.
HPAiHPA046588.
MalaCardsiALS2.
MIMi205100. phenotype.
606352. gene.
606353. phenotype.
607225. phenotype.
neXtProtiNX_Q96Q42.
OpenTargetsiENSG00000003393.
Orphaneti293168. Infantile-onset ascending hereditary spastic paralysis.
300605. Juvenile amyotrophic lateral sclerosis.
247604. Juvenile primary lateral sclerosis.
PharmGKBiPA24732.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0231. Eukaryota.
KOG1426. Eukaryota.
COG4642. LUCA.
GeneTreeiENSGT00730000110297.
HOVERGENiHBG037320.
InParanoidiQ96Q42.
KOiK04575.
OMAiDSYTEYC.
OrthoDBiEOG091G00CU.
PhylomeDBiQ96Q42.
TreeFamiTF331793.

Enzyme and pathway databases

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

Miscellaneous databases

ChiTaRSiALS2. human.
GeneWikiiALS2.
GenomeRNAii57679.
PROiQ96Q42.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000003393.
CleanExiHS_ALS2.
ExpressionAtlasiQ96Q42. baseline and differential.
GenevisibleiQ96Q42. HS.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.130.10.30. 2 hits.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR003409. MORN.
IPR011993. PH_dom-like.
IPR009091. RCC1/BLIP-II.
IPR000408. Reg_chr_condens.
IPR003123. VPS9.
[Graphical view]
PfamiPF02493. MORN. 8 hits.
PF00415. RCC1. 4 hits.
PF00621. RhoGEF. 1 hit.
PF02204. VPS9. 1 hit.
[Graphical view]
PRINTSiPR00633. RCCNDNSATION.
SMARTiSM00698. MORN. 8 hits.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF50985. SSF50985. 2 hits.
PROSITEiPS50010. DH_2. 1 hit.
PS00626. RCC1_2. 2 hits.
PS50012. RCC1_3. 5 hits.
PS51205. VPS9. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiALS2_HUMAN
AccessioniPrimary (citable) accession number: Q96Q42
Secondary accession number(s): Q53TT1
, Q53TV2, Q8N1E0, Q96PC4, Q96Q41, Q9H973, Q9HCK9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 9, 2003
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 154 of the entry and version 2 of the sequence. [Complete history]
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.