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Q8WWZ7

- ABCA5_HUMAN

UniProt

Q8WWZ7 - ABCA5_HUMAN

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Protein
ATP-binding cassette sub-family A member 5
Gene
ABCA5, KIAA1888
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

May play a role in the processing of autolysosomes By similarity.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi514 – 5218ATP 1 Reviewed prediction
Nucleotide bindingi1333 – 13408ATP 2 Reviewed prediction

GO - Molecular functioni

  1. ATP binding Source: UniProtKB-KW
  2. ATPase activity Source: InterPro
Complete GO annotation...

GO - Biological processi

  1. cholesterol efflux Source: BHF-UCL
  2. high-density lipoprotein particle remodeling Source: BHF-UCL
  3. negative regulation of macrophage derived foam cell differentiation Source: BHF-UCL
  4. reverse cholesterol transport Source: BHF-UCL
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Protein family/group databases

TCDBi3.A.1.211.9. the atp-binding cassette (abc) superfamily.

Names & Taxonomyi

Protein namesi
Recommended name:
ATP-binding cassette sub-family A member 5
Gene namesi
Name:ABCA5
Synonyms:KIAA1888
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 17

Organism-specific databases

HGNCiHGNC:35. ABCA5.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei32 – 5221Helical; Reviewed prediction
Add
BLAST
Transmembranei220 – 24021Helical; Reviewed prediction
Add
BLAST
Transmembranei264 – 28421Helical; Reviewed prediction
Add
BLAST
Transmembranei297 – 31721Helical; Reviewed prediction
Add
BLAST
Transmembranei328 – 34821Helical; Reviewed prediction
Add
BLAST
Transmembranei355 – 37521Helical; Reviewed prediction
Add
BLAST
Transmembranei396 – 41621Helical; Reviewed prediction
Add
BLAST
Transmembranei866 – 88621Helical; Reviewed prediction
Add
BLAST
Transmembranei967 – 98721Helical; Reviewed prediction
Add
BLAST
Transmembranei1021 – 104121Helical; Reviewed prediction
Add
BLAST
Transmembranei1071 – 109121Helical; Reviewed prediction
Add
BLAST
Transmembranei1102 – 112221Helical; Reviewed prediction
Add
BLAST
Transmembranei1139 – 115921Helical; Reviewed prediction
Add
BLAST
Transmembranei1169 – 118921Helical; Reviewed prediction
Add
BLAST
Transmembranei1207 – 122721Helical; Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi membrane Source: UniProtKB-SubCell
  2. integral component of membrane Source: UniProtKB-KW
  3. late endosome Source: BHF-UCL
  4. late endosome membrane Source: UniProtKB-SubCell
  5. lysosomal membrane Source: UniProtKB-SubCell
  6. lysosome Source: BHF-UCL
Complete GO annotation...

Keywords - Cellular componenti

Endosome, Golgi apparatus, Lysosome, Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA24380.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 16421642ATP-binding cassette sub-family A member 5
PRO_0000250669Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi86 – 861N-linked (GlcNAc...) Reviewed prediction
Glycosylationi458 – 4581N-linked (GlcNAc...) Reviewed prediction
Glycosylationi996 – 9961N-linked (GlcNAc...) Reviewed prediction

Post-translational modificationi

N-glycosylated By similarity.

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ8WWZ7.
PRIDEiQ8WWZ7.

PTM databases

PhosphoSiteiQ8WWZ7.

Expressioni

Tissue specificityi

Ubiquitously expressed. Highly expressed in testis, skeletal muscle, kidney, liver and placenta.2 Publications

Developmental stagei

Expressed in fetal liver, kidney and brain.1 Publication

Gene expression databases

ArrayExpressiQ8WWZ7.
BgeeiQ8WWZ7.
CleanExiHS_ABCA5.
GenevestigatoriQ8WWZ7.

Organism-specific databases

HPAiHPA022032.

Interactioni

Protein-protein interaction databases

BioGridi117024. 2 interactions.
IntActiQ8WWZ7. 2 interactions.
STRINGi9606.ENSP00000319766.

Structurei

3D structure databases

ProteinModelPortaliQ8WWZ7.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini478 – 713236ABC transporter 1
Add
BLAST
Domaini1290 – 1533244ABC transporter 2
Add
BLAST

Sequence similaritiesi

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiCOG1131.
HOGENOMiHOG000231057.
HOVERGENiHBG079884.
KOiK05648.
OrthoDBiEOG73Z2SB.
PhylomeDBiQ8WWZ7.
TreeFamiTF105192.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view]
PANTHERiPTHR19229. PTHR19229. 1 hit.
PfamiPF00005. ABC_tran. 2 hits.
[Graphical view]
SMARTiSM00382. AAA. 2 hits.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 2 hits.
PROSITEiPS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8WWZ7-1) [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

MSTAIREVGV WRQTRTLLLK NYLIKCRTKK SSVQEILFPL FFLFWLILIS     50
MMHPNKKYEE VPNIELNPMD KFTLSNLILG YTPVTNITSS IMQKVSTDHL 100
PDVIITEEYT NEKEMLTSSL SKPSNFVGVV FKDSMSYELR FFPDMIPVSS 150
IYMDSRAGCS KSCEAAQYWS SGFTVLQASI DAAIIQLKTN VSLWKELEST 200
KAVIMGETAV VEIDTFPRGV ILIYLVIAFS PFGYFLAIHI VAEKEKKIKE 250
FLKIMGLHDT AFWLSWVLLY TSLIFLMSLL MAVIATASLL FPQSSSIVIF 300
LLFFLYGLSS VFFALMLTPL FKKSKHVGIV EFFVTVAFGF IGLMIILIES 350
FPKSLVWLFS PFCHCTFVIG IAQVMHLEDF NEGASFSNLT AGPYPLIITI 400
IMLTLNSIFY VLLAVYLDQV IPGEFGLRRS SLYFLKPSYW SKSKRNYEEL 450
SEGNVNGNIS FSEIIEPVSS EFVGKEAIRI SGIQKTYRKK GENVEALRNL 500
SFDIYEGQIT ALLGHSGTGK STLMNILCGL CPPSDGFASI YGHRVSEIDE 550
MFEARKMIGI CPQLDIHFDV LTVEENLSIL ASIKGIPANN IIQEVQKVLL 600
DLDMQTIKDN QAKKLSGGQK RKLSLGIAVL GNPKILLLDE PTAGMDPCSR 650
HIVWNLLKYR KANRVTVFST HFMDEADILA DRKAVISQGM LKCVGSSMFL 700
KSKWGIGYRL SMYIDKYCAT ESLSSLVKQH IPGATLLQQN DQQLVYSLPF 750
KDMDKFSGLF SALDSHSNLG VISYGVSMTT LEDVFLKLEV EAEIDQADYS 800
VFTQQPLEEE MDSKSFDEME QSLLILSETK AALVSTMSLW KQQMYTIAKF 850
HFFTLKRESK SVRSVLLLLL IFFTVQIFMF LVHHSFKNAV VPIKLVPDLY 900
FLKPGDKPHK YKTSLLLQNS ADSDISDLIS FFTSQNIMVT MINDSDYVSV 950
APHSAALNVM HSEKDYVFAA VFNSTMVYSL PILVNIISNY YLYHLNVTET 1000
IQIWSTPFFQ EITDIVFKIE LYFQAALLGI IVTAMPPYFA MENAENHKIK 1050
AYTQLKLSGL LPSAYWIGQA VVDIPLFFII LILMLGSLLA FHYGLYFYTV 1100
KFLAVVFCLI GYVPSVILFT YIASFTFKKI LNTKEFWSFI YSVAALACIA 1150
ITEITFFMGY TIATILHYAF CIIIPIYPLL GCLISFIKIS WKNVRKNVDT 1200
YNPWDRLSVA VISPYLQCVL WIFLLQYYEK KYGGRSIRKD PFFRNLSTKS 1250
KNRKLPEPPD NEDEDEDVKA ERLKVKELMG CQCCEEKPSI MVSNLHKEYD 1300
DKKDFLLSRK VKKVATKYIS FCVKKGEILG LLGPNGAGKS TIINILVGDI 1350
EPTSGQVFLG DYSSETSEDD DSLKCMGYCP QINPLWPDTT LQEHFEIYGA 1400
VKGMSASDMK EVISRITHAL DLKEHLQKTV KKLPAGIKRK LCFALSMLGN 1450
PQITLLDEPS TGMDPKAKQH MWRAIRTAFK NRKRAAILTT HYMEEAEAVC 1500
DRVAIMVSGQ LRCIGTVQHL KSKFGKGYFL EIKLKDWIEN LEVDRLQREI 1550
QYIFPNASRQ ESFSSILAYK IPKEDVQSLS QSFFKLEEAK HAFAIEEYSF 1600
SQATLEQVFV ELTKEQEEED NSCGTLNSTL WWERTQEDRV VF 1642
Length:1,642
Mass (Da):186,508
Last modified:October 3, 2006 - v2
Checksum:i608809E8539804BF
GO
Isoform 2 (identifier: Q8WWZ7-2) [UniParc]FASTAAdd to Basket

Also known as: V20+16

The sequence of this isoform differs from the canonical sequence as follows:
     922-925: DSDI → GESV
     926-1642: Missing.

Show »
Length:925
Mass (Da):104,364
Checksum:iEF5D6A281832CE47
GO
Isoform 3 (identifier: Q8WWZ7-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-777: Missing.

Note: No experimental confirmation available.

Show »
Length:865
Mass (Da):99,273
Checksum:iF0A7BF87007E321F
GO

Sequence cautioni

The sequence BAB71700.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti93 – 931Q → K.
Corresponds to variant rs12383 [ dbSNP | Ensembl ].
VAR_027571
Natural varianti178 – 1781A → T.1 Publication
Corresponds to variant rs11544715 [ dbSNP | Ensembl ].
VAR_048128
Natural varianti484 – 4841Q → R.1 Publication
Corresponds to variant rs17686569 [ dbSNP | Ensembl ].
VAR_027572
Natural varianti753 – 7531M → V.
Corresponds to variant rs9898003 [ dbSNP | Ensembl ].
VAR_027573
Natural varianti832 – 8321A → S.3 Publications
Corresponds to variant rs536009 [ dbSNP | Ensembl ].
VAR_027574
Natural varianti960 – 9601M → V.1 Publication
Corresponds to variant rs557491 [ dbSNP | Ensembl ].
VAR_027575
Natural varianti1260 – 12601D → G.
Corresponds to variant rs11544716 [ dbSNP | Ensembl ].
VAR_048129

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 777777Missing in isoform 3.
VSP_020690Add
BLAST
Alternative sequencei922 – 9254DSDI → GESV in isoform 2.
VSP_020691
Alternative sequencei926 – 1642717Missing in isoform 2.
VSP_020692Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti1215 – 12151Y → H in BAB71208. 1 Publication
Sequence conflicti1357 – 13571V → I in CAB93535. 1 Publication
Sequence conflicti1366 – 13661T → S in CAB93535. 1 Publication
Sequence conflicti1371 – 13711D → G in BAB71208. 1 Publication
Sequence conflicti1419 – 14191A → G in BAB71208. 1 Publication
Sequence conflicti1523 – 15231K → R in BAB71208. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY028897 mRNA. Translation: AAK30022.1.
AJ275973 mRNA. Translation: CAB93535.3.
AJ512612 mRNA. Translation: CAD54757.1.
AK056533 mRNA. Translation: BAB71208.1.
AK058170 mRNA. Translation: BAB71700.1. Different initiation.
AB067475 mRNA. Translation: BAB67781.1.
CCDSiCCDS11685.1. [Q8WWZ7-1]
RefSeqiNP_061142.2. NM_018672.4. [Q8WWZ7-1]
NP_758424.1. NM_172232.3. [Q8WWZ7-1]
UniGeneiHs.731824.

Genome annotation databases

EnsembliENST00000392676; ENSP00000376443; ENSG00000154265. [Q8WWZ7-1]
ENST00000588877; ENSP00000467882; ENSG00000154265. [Q8WWZ7-1]
GeneIDi23461.
KEGGihsa:23461.
UCSCiuc002jib.2. human. [Q8WWZ7-3]
uc002jic.2. human. [Q8WWZ7-1]
uc002jih.2. human. [Q8WWZ7-2]

Polymorphism databases

DMDMi115503762.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

ABCMdb

Database for mutations in ABC proteins

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY028897 mRNA. Translation: AAK30022.1 .
AJ275973 mRNA. Translation: CAB93535.3 .
AJ512612 mRNA. Translation: CAD54757.1 .
AK056533 mRNA. Translation: BAB71208.1 .
AK058170 mRNA. Translation: BAB71700.1 . Different initiation.
AB067475 mRNA. Translation: BAB67781.1 .
CCDSi CCDS11685.1. [Q8WWZ7-1 ]
RefSeqi NP_061142.2. NM_018672.4. [Q8WWZ7-1 ]
NP_758424.1. NM_172232.3. [Q8WWZ7-1 ]
UniGenei Hs.731824.

3D structure databases

ProteinModelPortali Q8WWZ7.
ModBasei Search...

Protein-protein interaction databases

BioGridi 117024. 2 interactions.
IntActi Q8WWZ7. 2 interactions.
STRINGi 9606.ENSP00000319766.

Protein family/group databases

TCDBi 3.A.1.211.9. the atp-binding cassette (abc) superfamily.

PTM databases

PhosphoSitei Q8WWZ7.

Polymorphism databases

DMDMi 115503762.

Proteomic databases

PaxDbi Q8WWZ7.
PRIDEi Q8WWZ7.

Protocols and materials databases

DNASUi 23461.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000392676 ; ENSP00000376443 ; ENSG00000154265 . [Q8WWZ7-1 ]
ENST00000588877 ; ENSP00000467882 ; ENSG00000154265 . [Q8WWZ7-1 ]
GeneIDi 23461.
KEGGi hsa:23461.
UCSCi uc002jib.2. human. [Q8WWZ7-3 ]
uc002jic.2. human. [Q8WWZ7-1 ]
uc002jih.2. human. [Q8WWZ7-2 ]

Organism-specific databases

CTDi 23461.
GeneCardsi GC17M067240.
HGNCi HGNC:35. ABCA5.
HPAi HPA022032.
MIMi 612503. gene.
neXtProti NX_Q8WWZ7.
PharmGKBi PA24380.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1131.
HOGENOMi HOG000231057.
HOVERGENi HBG079884.
KOi K05648.
OrthoDBi EOG73Z2SB.
PhylomeDBi Q8WWZ7.
TreeFami TF105192.

Miscellaneous databases

ChiTaRSi ABCA5. human.
GenomeRNAii 23461.
NextBioi 45765.
PROi Q8WWZ7.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8WWZ7.
Bgeei Q8WWZ7.
CleanExi HS_ABCA5.
Genevestigatori Q8WWZ7.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR003593. AAA+_ATPase.
IPR026082. ABC_A.
IPR003439. ABC_transporter-like.
IPR017871. ABC_transporter_CS.
IPR027417. P-loop_NTPase.
[Graphical view ]
PANTHERi PTHR19229. PTHR19229. 1 hit.
Pfami PF00005. ABC_tran. 2 hits.
[Graphical view ]
SMARTi SM00382. AAA. 2 hits.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 2 hits.
PROSITEi PS00211. ABC_TRANSPORTER_1. 1 hit.
PS50893. ABC_TRANSPORTER_2. 2 hits.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Identifying and characterizing a five-gene cluster of ATP-binding cassette transporters mapping to human chromosome 17q24: a new subgroup within the ABCA subfamily."
    Arnould I., Schriml L.M., Prades C., Lachtermacher-Triunfol M., Schneider T., Maintoux C., Lemoine C., Debono D., Devaud C., Naudin L., Bauche S., Annat M., Annilo T., Allikmets R., Gold B., Denefle P., Rosier M., Dean M.
    GeneScreen 1:157-164(2001)
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT SER-832, TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
    Tissue: Testis.
  2. "Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant."
    Petry F., Kotthaus A., Hirsch-Ernst K.I.
    Biochem. Biophys. Res. Commun. 300:343-350(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, VARIANTS THR-178; ARG-484 AND SER-832.
    Tissue: Hepatoma and Testis.
  3. "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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1187-1642 (ISOFORM 1), VARIANT SER-832.
    Tissue: Teratocarcinoma and Testis.
  4. "Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins."
    Nagase T., Kikuno R., Ohara O.
    DNA Res. 8:179-187(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 906-1642 (ISOFORM 1), VARIANT VAL-960.
    Tissue: Brain.

Entry informationi

Entry nameiABCA5_HUMAN
AccessioniPrimary (citable) accession number: Q8WWZ7
Secondary accession number(s): Q8IVJ2
, Q96LJ1, Q96MS4, Q96PZ9, Q9NY14
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 3, 2006
Last modified: July 9, 2014
This is version 95 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 17
    Human chromosome 17: 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

External Data

Dasty 3

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