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Protein

Puratrophin-1

Gene

PLEKHG4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Possible role in intracellular signaling and cytoskeleton dynamics at the Golgi.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Names & Taxonomyi

Protein namesi
Recommended name:
Puratrophin-1
Alternative name(s):
Pleckstrin homology domain-containing family G member 4
Short name:
PH domain-containing family G member 4
Purkinje cell atrophy-associated protein 1
Gene namesi
Name:PLEKHG4
Synonyms:PRTPHN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:24501. PLEKHG4.

Pathology & Biotechi

Organism-specific databases

MalaCardsiPLEKHG4.
Orphaneti98765. Spinocerebellar ataxia type 4.
PharmGKBiPA142671163.

Polymorphism and mutation databases

BioMutaiPLEKHG4.
DMDMi74755121.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11911191Puratrophin-1PRO_0000224996Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei64 – 641PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ58EX7.
MaxQBiQ58EX7.
PaxDbiQ58EX7.
PRIDEiQ58EX7.

PTM databases

iPTMnetiQ58EX7.
PhosphoSiteiQ58EX7.

Expressioni

Tissue specificityi

Expressed in kidney, Leydig cells in the testis, epithelial cells in the prostate gland and Langerhans islet in the pancreas. Isoform 1 and isoform 3 are strongly expressed in Purkinje cells and to a lower extent in other neurons (at protein level). Widely expressed at low levels. More strongly expressed in testis and pancreas.1 Publication

Gene expression databases

BgeeiQ58EX7.
CleanExiHS_PLEKHG4.
ExpressionAtlasiQ58EX7. baseline and differential.
GenevisibleiQ58EX7. HS.

Organism-specific databases

HPAiHPA041744.
HPA055696.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
MDFIQ997503EBI-949255,EBI-724076

Protein-protein interaction databases

BioGridi117402. 13 interactions.
IntActiQ58EX7. 4 interactions.
MINTiMINT-2871635.
STRINGi9606.ENSP00000353646.

Structurei

3D structure databases

ProteinModelPortaliQ58EX7.
SMRiQ58EX7. Positions 736-1029.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini732 – 908177DHPROSITE-ProRule annotationAdd
BLAST
Domaini920 – 1027108PHPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG0689. Eukaryota.
ENOG410XSWY. LUCA.
GeneTreeiENSGT00760000119030.
HOGENOMiHOG000115559.
HOVERGENiHBG082147.
InParanoidiQ58EX7.
OMAiLQPLAGW.
OrthoDBiEOG744T87.
PhylomeDBiQ58EX7.
TreeFamiTF334329.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR001251. CRAL-TRIO_dom.
IPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF52087. SSF52087. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: Q58EX7-1) [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
MERPLENGDE SPDSQGHATD WRFAVCSFRD AWEEEEPASQ MHVKDPGPPR
60 70 80 90 100
PPAGATQDEE LQGSPLSRKF QLPPAADESG DAQRGTVESS SVLSEGPGPS
110 120 130 140 150
GVESLLCPMS SHLSLAQGES DTPGVGLVGD PGPSRAMPSG LSPGALDSDP
160 170 180 190 200
VGLGDPLSEI SKLLEAAPSG SGLPKPADCL LAQDLCWELL ASGMATLPGT
210 220 230 240 250
RDVQGRAVLL LCAHSPAWLQ SECSSQELIR LLLYLRSIPR PEVQALGLTV
260 270 280 290 300
LVDARICAPS SSLFSGLSQL QEAAPGAVYQ VLLVGSTLLK EVPSGLQLEQ
310 320 330 340 350
LPSQSLLTHI PTAGLPTSLG GGLPYCHQAW LDFRRRLEAL LQNCQAACAL
360 370 380 390 400
LQGAIESVKA VPQPMEPGEV GQLLQQTEVL MQQVLDSPWL AWLQCQGGRE
410 420 430 440 450
LTWLKQEVPE VTLSPDYRTA MDKADELYDR VDGLLHQLTL QSNQRIQALE
460 470 480 490 500
LVQTLEARES GLHQIEVWLQ QVGWPALEEA GEPSLDMLLQ AQGSFQELYQ
510 520 530 540 550
VAQEQVRQGE KFLQPLTGWE AAELDPPGAR FLALRAQLTE FSRALAQRCQ
560 570 580 590 600
RLADAERLFQ LFREALTWAE EGQRVLAELE QERPGVVLQQ LQLHWTRHPD
610 620 630 640 650
LPPAHFRKMW ALATGLGSEA IRQECRWAWA RCQDTWLALD QKLEASLKLP
660 670 680 690 700
PVGSTASLCV SQVPAAPAHP PLRKAYSFDR NLGQSLSEPA CHCHHAATIA
710 720 730 740 750
ACRRPEAGGG ALPQASPTVP PPGSSDPRSL NRLQLVLAEM VATEREYVRA
760 770 780 790 800
LEYTMENYFP ELDRPDVPQG LRGQRAHLFG NLEKLRDFHC HFFLRELEAC
810 820 830 840 850
TRHPPRVAYA FLRHRVQFGM YALYSKNKPR SDALMSSYGH TFFKDKQQAL
860 870 880 890 900
GDHLDLASYL LKPIQRMGKY ALLLQELARA CGGPTQELSA LREAQSLVHF
910 920 930 940 950
QLRHGNDLLA MDAIQGCDVN LKEQGQLVRQ DEFVVRTGRH KSVRRIFLFE
960 970 980 990 1000
ELLLFSKPRH GPTGVDTFAY KRSFKMADLG LTECCGNSNL RFEIWFRRRK
1010 1020 1030 1040 1050
ARDTFVLQAS SLAIKQAWTA DISHLLWRQA VHNKEVRMAE MVSMGVGNKA
1060 1070 1080 1090 1100
FRDIAPSEEA INDRTVNYVL KCREVRSRAS IAVAPFDHDS LYLGASNSLP
1110 1120 1130 1140 1150
GDPASCSVLG SLNLHLYRDP ALLGLRCPLY PSFPEEAALE AEAELGGQPS
1160 1170 1180 1190
LTAEDSEISS QCPSASGSSG SDSSCVSGQA LGRGLEDLPC V
Length:1,191
Mass (Da):130,803
Last modified:April 26, 2005 - v1
Checksum:iACFF5EE342CE56FD
GO
Isoform 2 (identifier: Q58EX7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     118-198: Missing.

Note: No experimental confirmation available.
Show »
Length:1,110
Mass (Da):122,896
Checksum:iB71E612E653CC8C9
GO
Isoform 3 (identifier: Q58EX7-3) [UniParc]FASTAAdd to basket

Also known as: short

The sequence of this isoform differs from the canonical sequence as follows:
     167-193: APSGSGLPKPADCLLAQDLCWELLASG → GKEGWAREVWEGNGDAWRDECQDFGGL
     194-1191: Missing.

Show »
Length:193
Mass (Da):20,247
Checksum:iBB42E7F515F7141C
GO

Sequence cautioni

The sequence AAH82974.1 differs from that shown. Reason: Frameshift at position 3. Curated
The sequence BAB15765.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti474 – 4741W → L in AAH54486 (PubMed:15489334).Curated
Sequence conflicti998 – 9981R → G in AAH54486 (PubMed:15489334).Curated
Sequence conflicti1134 – 11341P → L in CAB55923 (PubMed:17974005).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti412 – 4121T → I.
Corresponds to variant rs11860295 [ dbSNP | Ensembl ].
VAR_050509
Natural varianti525 – 5251D → G.
Corresponds to variant rs8044843 [ dbSNP | Ensembl ].
VAR_050510
Natural varianti830 – 8301R → H.
Corresponds to variant rs3868142 [ dbSNP | Ensembl ].
VAR_050511
Natural varianti1064 – 10641R → H.
Corresponds to variant rs56077142 [ dbSNP | Ensembl ].
VAR_061519
Natural varianti1090 – 10901S → T.
Corresponds to variant rs17680862 [ dbSNP | Ensembl ].
VAR_050512

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei118 – 19881Missing in isoform 2. 1 PublicationVSP_017329Add
BLAST
Alternative sequencei167 – 19327APSGS…LLASG → GKEGWAREVWEGNGDAWRDE CQDFGGL in isoform 3. 1 PublicationVSP_017330Add
BLAST
Alternative sequencei194 – 1191998Missing in isoform 3. 1 PublicationVSP_017331Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB197663 mRNA. Translation: BAE07054.1.
AB197664 mRNA. Translation: BAE07055.1.
AK024475 mRNA. Translation: BAB15765.1. Different initiation.
BC054486 mRNA. Translation: AAH54486.1.
BC063501 mRNA. Translation: AAH63501.1.
BC082974 mRNA. Translation: AAH82974.1. Frameshift.
AL117435 mRNA. Translation: CAB55923.1.
CCDSiCCDS32466.1. [Q58EX7-1]
CCDS45512.1. [Q58EX7-2]
PIRiT17233.
RefSeqiNP_001123199.1. NM_001129727.2. [Q58EX7-1]
NP_001123200.1. NM_001129728.1. [Q58EX7-1]
NP_001123201.1. NM_001129729.2. [Q58EX7-1]
NP_001123203.1. NM_001129731.2. [Q58EX7-2]
XP_011521287.1. XM_011522985.1. [Q58EX7-1]
XP_011521288.1. XM_011522986.1. [Q58EX7-1]
XP_011521289.1. XM_011522987.1. [Q58EX7-1]
XP_011521290.1. XM_011522988.1. [Q58EX7-1]
UniGeneiHs.188781.

Genome annotation databases

EnsembliENST00000360461; ENSP00000353646; ENSG00000196155. [Q58EX7-1]
ENST00000379344; ENSP00000368649; ENSG00000196155. [Q58EX7-1]
ENST00000393966; ENSP00000462601; ENSG00000196155. [Q58EX7-3]
ENST00000427155; ENSP00000401118; ENSG00000196155. [Q58EX7-1]
ENST00000450733; ENSP00000398030; ENSG00000196155. [Q58EX7-2]
ENST00000563969; ENSP00000457086; ENSG00000196155. [Q58EX7-3]
GeneIDi25894.
KEGGihsa:25894.
UCSCiuc002eso.5. human. [Q58EX7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB197663 mRNA. Translation: BAE07054.1.
AB197664 mRNA. Translation: BAE07055.1.
AK024475 mRNA. Translation: BAB15765.1. Different initiation.
BC054486 mRNA. Translation: AAH54486.1.
BC063501 mRNA. Translation: AAH63501.1.
BC082974 mRNA. Translation: AAH82974.1. Frameshift.
AL117435 mRNA. Translation: CAB55923.1.
CCDSiCCDS32466.1. [Q58EX7-1]
CCDS45512.1. [Q58EX7-2]
PIRiT17233.
RefSeqiNP_001123199.1. NM_001129727.2. [Q58EX7-1]
NP_001123200.1. NM_001129728.1. [Q58EX7-1]
NP_001123201.1. NM_001129729.2. [Q58EX7-1]
NP_001123203.1. NM_001129731.2. [Q58EX7-2]
XP_011521287.1. XM_011522985.1. [Q58EX7-1]
XP_011521288.1. XM_011522986.1. [Q58EX7-1]
XP_011521289.1. XM_011522987.1. [Q58EX7-1]
XP_011521290.1. XM_011522988.1. [Q58EX7-1]
UniGeneiHs.188781.

3D structure databases

ProteinModelPortaliQ58EX7.
SMRiQ58EX7. Positions 736-1029.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi117402. 13 interactions.
IntActiQ58EX7. 4 interactions.
MINTiMINT-2871635.
STRINGi9606.ENSP00000353646.

PTM databases

iPTMnetiQ58EX7.
PhosphoSiteiQ58EX7.

Polymorphism and mutation databases

BioMutaiPLEKHG4.
DMDMi74755121.

Proteomic databases

EPDiQ58EX7.
MaxQBiQ58EX7.
PaxDbiQ58EX7.
PRIDEiQ58EX7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000360461; ENSP00000353646; ENSG00000196155. [Q58EX7-1]
ENST00000379344; ENSP00000368649; ENSG00000196155. [Q58EX7-1]
ENST00000393966; ENSP00000462601; ENSG00000196155. [Q58EX7-3]
ENST00000427155; ENSP00000401118; ENSG00000196155. [Q58EX7-1]
ENST00000450733; ENSP00000398030; ENSG00000196155. [Q58EX7-2]
ENST00000563969; ENSP00000457086; ENSG00000196155. [Q58EX7-3]
GeneIDi25894.
KEGGihsa:25894.
UCSCiuc002eso.5. human. [Q58EX7-1]

Organism-specific databases

CTDi25894.
GeneCardsiPLEKHG4.
HGNCiHGNC:24501. PLEKHG4.
HPAiHPA041744.
HPA055696.
MalaCardsiPLEKHG4.
MIMi609526. gene.
neXtProtiNX_Q58EX7.
Orphaneti98765. Spinocerebellar ataxia type 4.
PharmGKBiPA142671163.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0689. Eukaryota.
ENOG410XSWY. LUCA.
GeneTreeiENSGT00760000119030.
HOGENOMiHOG000115559.
HOVERGENiHBG082147.
InParanoidiQ58EX7.
OMAiLQPLAGW.
OrthoDBiEOG744T87.
PhylomeDBiQ58EX7.
TreeFamiTF334329.

Miscellaneous databases

GeneWikiiPLEKHG4.
GenomeRNAii25894.
PROiQ58EX7.
SOURCEiSearch...

Gene expression databases

BgeeiQ58EX7.
CleanExiHS_PLEKHG4.
ExpressionAtlasiQ58EX7. baseline and differential.
GenevisibleiQ58EX7. HS.

Family and domain databases

Gene3Di1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR001251. CRAL-TRIO_dom.
IPR000219. DH-domain.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
[Graphical view]
PfamiPF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMiSSF48065. SSF48065. 1 hit.
SSF50729. SSF50729. 1 hit.
SSF52087. SSF52087. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "An autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains."
    Ishikawa K., Toru S., Tsunemi T., Li M., Kobayashi K., Yokota T., Amino T., Owada K., Fujigasaki H., Sakamoto M., Tomimitsu H., Takashima M., Kumagai J., Noguchi Y., Kawashima Y., Ohkoshi N., Ishida G., Gomyoda M.
    , Yoshida M., Hashizume Y., Saito Y., Murayama S., Yamanouchi H., Mizutani T., Kondo I., Toda T., Mizusawa H.
    Am. J. Hum. Genet. 77:280-296(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), TISSUE SPECIFICITY.
    Tissue: Cerebellum.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Spleen.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Brain, Eye and Skin.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 278-1191 (ISOFORMS 1/2).
    Tissue: Testis.
  5. "Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia."
    Amino T., Ishikawa K., Toru S., Ishiguro T., Sato N., Tsunemi T., Murata M., Kobayashi K., Inazawa J., Toda T., Mizusawa H.
    J. Hum. Genet. 52:643-649(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: LACK OF INVOLVEMENT IN SPINOCEREBELLAR ATAXIA, REDEFINITION OF THE SPINOCEREBELLAR ATAXIA LOCUS ON CHROMOSOME 16.
  6. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-64, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiPKHG4_HUMAN
AccessioniPrimary (citable) accession number: Q58EX7
Secondary accession number(s): Q4G0J8
, Q4H485, Q56A69, Q9H7K4, Q9UFW0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 7, 2006
Last sequence update: April 26, 2005
Last modified: June 8, 2016
This is version 104 of the entry and version 1 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

Caution

Defects in PLEKHG4 were initially thought (PubMed:16001362) to be the cause of spinocerebellar ataxia 16q22-linked. However, it was later shown (PubMed:17611710) that it is not the case. Spinocerebellar ataxia 16q22-linked, also known as spinocerebellar ataxia type 31 (SCA31), is caused by defects in BEAN gene.2 Publications

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 16
    Human chromosome 16: 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.