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Q8NEL9

- DDHD1_HUMAN

UniProt

Q8NEL9 - DDHD1_HUMAN

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Protein

Phospholipase DDHD1

Gene

DDHD1

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

Functioni

Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei537 – 5371By similarity

GO - Molecular functioni

  1. hydrolase activity Source: UniProtKB-KW
  2. metal ion binding Source: InterPro

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. lipid catabolic process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Keywords - Biological processi

Lipid degradation, Lipid metabolism

Names & Taxonomyi

Protein namesi
Recommended name:
Phospholipase DDHD1 (EC:3.1.1.-)
Alternative name(s):
DDHD domain-containing protein 1
Phosphatidic acid-preferring phospholipase A1 homolog
Short name:
PA-PLA1
Gene namesi
Name:DDHD1
Synonyms:KIAA1705
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 14

Organism-specific databases

HGNCiHGNC:19714. DDHD1.

Subcellular locationi

Cytoplasm 1 Publication

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Spastic paraplegia 28, autosomal recessive (SPG28) [MIM:609340]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG28 patients also have distal sensory impairment.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi590 – 5901L → S: No effect on homooligomer formation; when associated with S-593. 1 Publication
Mutagenesisi593 – 5931I → S: No effect on homooligomer formation; when associated with S-590. 1 Publication
Mutagenesisi662 – 6621D → A: Markedly decreased enzymatic activity. 1 Publication
Mutagenesisi848 – 8481D → A: Markedly decreased enzymatic activity. 1 Publication
Mutagenesisi867 – 8671H → A: Markedly decreased enzymatic activity. 1 Publication
Mutagenesisi875 – 8751D → A: No effect on enzymatic activity. 1 Publication

Keywords - Diseasei

Hereditary spastic paraplegia, Neurodegeneration

Organism-specific databases

MIMi609340. phenotype.
Orphaneti101008. Autosomal recessive spastic paraplegia type 28.
PharmGKBiPA134861440.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 900900Phospholipase DDHD1PRO_0000079845Add
BLAST

Proteomic databases

MaxQBiQ8NEL9.
PaxDbiQ8NEL9.
PRIDEiQ8NEL9.

PTM databases

PhosphoSiteiQ8NEL9.

Expressioni

Tissue specificityi

Highly expressed in testis. Also expressed in brain, spleen and lung. Only expressed in cerebellum in fetal brain.1 Publication

Gene expression databases

BgeeiQ8NEL9.
CleanExiHS_DDHD1.
ExpressionAtlasiQ8NEL9. baseline and differential.
GenevestigatoriQ8NEL9.

Organism-specific databases

HPAiHPA049870.

Interactioni

Subunit structurei

Forms homooligomers and, to a much smaller extent, heterooligomers with DDHD2.1 Publication

Protein-protein interaction databases

BioGridi123318. 1 interaction.
STRINGi9606.ENSP00000350401.

Structurei

3D structure databases

ProteinModelPortaliQ8NEL9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini611 – 886276DDHDPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the PA-PLA1 family.Curated
Contains 1 DDHD domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG285690.
GeneTreeiENSGT00530000063155.
HOGENOMiHOG000007412.
HOVERGENiHBG059037.
InParanoidiQ8NEL9.
KOiK13619.
OMAiHLALDPC.
OrthoDBiEOG790G09.
PhylomeDBiQ8NEL9.
TreeFamiTF314133.

Family and domain databases

InterProiIPR004177. DDHD.
[Graphical view]
PfamiPF02862. DDHD. 1 hit.
[Graphical view]
PROSITEiPS51043. DDHD. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8NEL9-1) [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
MNYPGRGSPR SPEHNGRGGG GGAWELGSDA RPAFGGGVCC FEHLPGGDPD
60 70 80 90 100
DGDVPLALLR GEPGLHLAPG TDDHNHHLAL DPCLSDENYD FSSAESGSSL
110 120 130 140 150
RYYSEGESGG GGSSLSLHPP QQPPLVPTNS GGGGATGGSP GERKRTRLGG
160 170 180 190 200
PAARHRYEVV TELGPEEVRW FYKEDKKTWK PFIGYDSLRI ELAFRTLLQT
210 220 230 240 250
TGARPQGGDR DGDHVCSPTG PASSSGEDDD EDRACGFCQS TTGHEPEMVE
260 270 280 290 300
LVNIEPVCVR GGLYEVDVTQ GECYPVYWNQ ADKIPVMRGQ WFIDGTWQPL
310 320 330 340 350
EEEESNLIEQ EHLNCFRGQQ MQENFDIEVS KSIDGKDAVH SFKLSRNHVD
360 370 380 390 400
WHSVDEVYLY SDATTSKIAR TVTQKLGFSK ASSSGTRLHR GYVEEATLED
410 420 430 440 450
KPSQTTHIVF VVHGIGQKMD QGRIIKNTAM MREAARKIEE RHFSNHATHV
460 470 480 490 500
EFLPVEWRSK LTLDGDTVDS ITPDKVRGLR DMLNSSAMDI MYYTSPLYRD
510 520 530 540 550
ELVKGLQQEL NRLYSLFCSR NPDFEEKGGK VSIVSHSLGC VITYDIMTGW
560 570 580 590 600
NPVRLYEQLL QKEEELPDER WMSYEERHLL DELYITKRRL KEIEERLHGL
610 620 630 640 650
KASSMTQTPA LKFKVENFFC MGSPLAVFLA LRGIRPGNTG SQDHILPREI
660 670 680 690 700
CNRLLNIFHP TDPVAYRLEP LILKHYSNIS PVQIHWYNTS NPLPYEHMKP
710 720 730 740 750
SFLNPAKEPT SVSENEGIST IPSPVTSPVL SRRHYGESIT NIGKASILGA
760 770 780 790 800
ASIGKGLGGM LFSRFGRSST TQSSETSKDS MEDEKKPVAS PSATTVGTQT
810 820 830 840 850
LPHSSSGFLD SAYFRLQESF FNLPQLLFPE NVMQNKDNAL VELDHRIDFE
860 870 880 890 900
LREGLVESRY WSAVTSHTAY WSSLDVALFL LTFMYKHEHD DDAKPNLDPI
Length:900
Mass (Da):100,435
Last modified:October 24, 2003 - v2
Checksum:iD70DAD1A73AC22B8
GO
Isoform 2 (identifier: Q8NEL9-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     813-841: YFRLQESFFNLPQLLFPENVMQNKDNALV → L

Show »
Length:872
Mass (Da):97,050
Checksum:iD58636E03DB8BF78
GO
Isoform 3 (identifier: Q8NEL9-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-418: Missing.
     813-841: YFRLQESFFNLPQLLFPENVMQNKDNALV → L

Note: No experimental confirmation available.

Show »
Length:454
Mass (Da):51,554
Checksum:i06138258AEADA349
GO
Isoform 4 (identifier: Q8NEL9-4) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     337-337: D → DGSGINYS
     813-841: YFRLQESFFNLPQLLFPENVMQNKDNALV → L

Note: No experimental confirmation available.

Show »
Length:879
Mass (Da):97,729
Checksum:i80B36E3D1CAE627F
GO

Sequence cautioni

The sequence BAB21796.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence BAB71679.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti109 – 1091G → GGG in AK125372. (PubMed:14702039)Curated
Sequence conflicti675 – 6751H → R in AAH30703. (PubMed:15489334)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 418418Missing in isoform 3. 2 PublicationsVSP_008628Add
BLAST
Alternative sequencei337 – 3371D → DGSGINYS in isoform 4. CuratedVSP_045340
Alternative sequencei813 – 84129YFRLQ…DNALV → L in isoform 2, isoform 3 and isoform 4. 3 PublicationsVSP_008629Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB051492 mRNA. Translation: BAB21796.1. Different initiation.
AK058137 mRNA. Translation: BAB71679.1. Different initiation.
AK125372 mRNA. No translation available.
AL352979 Genomic DNA. No translation available.
AL356020 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW80623.1.
BC018014 mRNA. Translation: AAH18014.1.
BC030703 mRNA. Translation: AAH30703.1.
CCDSiCCDS53895.1. [Q8NEL9-1]
CCDS53896.1. [Q8NEL9-4]
CCDS9714.1. [Q8NEL9-2]
RefSeqiNP_001153619.1. NM_001160147.1. [Q8NEL9-4]
NP_001153620.1. NM_001160148.1. [Q8NEL9-1]
NP_085140.2. NM_030637.2. [Q8NEL9-2]
UniGeneiHs.125525.

Genome annotation databases

EnsembliENST00000323669; ENSP00000327104; ENSG00000100523. [Q8NEL9-1]
ENST00000357758; ENSP00000350401; ENSG00000100523. [Q8NEL9-2]
ENST00000395606; ENSP00000378970; ENSG00000100523. [Q8NEL9-4]
GeneIDi80821.
KEGGihsa:80821.
UCSCiuc001xag.3. human. [Q8NEL9-3]
uc001xah.3. human. [Q8NEL9-2]
uc001xai.3. human. [Q8NEL9-1]
uc001xaj.3. human.

Polymorphism databases

DMDMi37999716.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB051492 mRNA. Translation: BAB21796.1 . Different initiation.
AK058137 mRNA. Translation: BAB71679.1 . Different initiation.
AK125372 mRNA. No translation available.
AL352979 Genomic DNA. No translation available.
AL356020 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW80623.1 .
BC018014 mRNA. Translation: AAH18014.1 .
BC030703 mRNA. Translation: AAH30703.1 .
CCDSi CCDS53895.1. [Q8NEL9-1 ]
CCDS53896.1. [Q8NEL9-4 ]
CCDS9714.1. [Q8NEL9-2 ]
RefSeqi NP_001153619.1. NM_001160147.1. [Q8NEL9-4 ]
NP_001153620.1. NM_001160148.1. [Q8NEL9-1 ]
NP_085140.2. NM_030637.2. [Q8NEL9-2 ]
UniGenei Hs.125525.

3D structure databases

ProteinModelPortali Q8NEL9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 123318. 1 interaction.
STRINGi 9606.ENSP00000350401.

PTM databases

PhosphoSitei Q8NEL9.

Polymorphism databases

DMDMi 37999716.

Proteomic databases

MaxQBi Q8NEL9.
PaxDbi Q8NEL9.
PRIDEi Q8NEL9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000323669 ; ENSP00000327104 ; ENSG00000100523 . [Q8NEL9-1 ]
ENST00000357758 ; ENSP00000350401 ; ENSG00000100523 . [Q8NEL9-2 ]
ENST00000395606 ; ENSP00000378970 ; ENSG00000100523 . [Q8NEL9-4 ]
GeneIDi 80821.
KEGGi hsa:80821.
UCSCi uc001xag.3. human. [Q8NEL9-3 ]
uc001xah.3. human. [Q8NEL9-2 ]
uc001xai.3. human. [Q8NEL9-1 ]
uc001xaj.3. human.

Organism-specific databases

CTDi 80821.
GeneCardsi GC14M053510.
HGNCi HGNC:19714. DDHD1.
HPAi HPA049870.
MIMi 609340. phenotype.
614603. gene.
neXtProti NX_Q8NEL9.
Orphaneti 101008. Autosomal recessive spastic paraplegia type 28.
PharmGKBi PA134861440.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG285690.
GeneTreei ENSGT00530000063155.
HOGENOMi HOG000007412.
HOVERGENi HBG059037.
InParanoidi Q8NEL9.
KOi K13619.
OMAi HLALDPC.
OrthoDBi EOG790G09.
PhylomeDBi Q8NEL9.
TreeFami TF314133.

Miscellaneous databases

ChiTaRSi DDHD1. human.
GenomeRNAii 80821.
NextBioi 71223.
PROi Q8NEL9.
SOURCEi Search...

Gene expression databases

Bgeei Q8NEL9.
CleanExi HS_DDHD1.
ExpressionAtlasi Q8NEL9. baseline and differential.
Genevestigatori Q8NEL9.

Family and domain databases

InterProi IPR004177. DDHD.
[Graphical view ]
Pfami PF02862. DDHD. 1 hit.
[Graphical view ]
PROSITEi PS51043. DDHD. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Kikuno R., Hattori A., Kondo Y., Okumura K., Ohara O.
    DNA Res. 7:347-355(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Brain.
  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 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 357-900 (ISOFORMS 2/4).
    Tissue: Fetal brain and Testis.
  3. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "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 and Testis.
  6. "Cloning of a phosphatidic acid-preferring phospholipase A1 from bovine testis."
    Higgs H.N., Han M.H., Johnson G.E., Glomset J.A.
    J. Biol. Chem. 273:5468-5477(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: TISSUE SPECIFICITY.
  7. "p125 is localized in endoplasmic reticulum exit sites and involved in their organization."
    Shimoi W., Ezawa I., Nakamoto K., Uesaki S., Gabreski G., Aridor M., Yamamoto A., Nagahama M., Tagaya M., Tani K.
    J. Biol. Chem. 280:10141-10148(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: INVOLVEMENT IN SPG28.
  10. "Roles of SAM and DDHD domains in mammalian intracellular phospholipase A1 KIAA0725p."
    Inoue H., Baba T., Sato S., Ohtsuki R., Takemori A., Watanabe T., Tagaya M., Tani K.
    Biochim. Biophys. Acta 1823:930-939(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBUNIT, HOMOOLIGOMER FORMATION, INTERACTION WITH DDHD2, MUTAGENESIS OF LEU-590; ILE-593; ASP-662; ASP-848; HIS-867 AND ASP-875.

Entry informationi

Entry nameiDDHD1_HUMAN
AccessioniPrimary (citable) accession number: Q8NEL9
Secondary accession number(s): G5E9D1
, Q8WVH3, Q96LL2, Q9C0F8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 24, 2003
Last sequence update: October 24, 2003
Last modified: November 26, 2014
This is version 97 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 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3