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Q9UI46

- DNAI1_HUMAN

UniProt

Q9UI46 - DNAI1_HUMAN

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Protein

Dynein intermediate chain 1, axonemal

Gene

DNAI1

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

Functioni

Part of the dynein complex of respiratory cilia.

GO - Molecular functioni

  1. motor activity Source: ProtInc

GO - Biological processi

  1. cell projection organization Source: UniProtKB-KW
  2. epithelial cilium movement Source: Ensembl
  3. metabolic process Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Motor protein

Keywords - Biological processi

Cilium biogenesis/degradation

Enzyme and pathway databases

SignaLinkiQ9UI46.

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein intermediate chain 1, axonemal
Alternative name(s):
Axonemal dynein intermediate chain 1
Gene namesi
Name:DNAI1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:2954. DNAI1.

Subcellular locationi

GO - Cellular componenti

  1. cilium Source: ProtInc
  2. cytoplasm Source: UniProtKB-KW
  3. cytoskeleton Source: ProtInc
  4. dynein complex Source: UniProtKB-KW
  5. microtubule Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Dynein, Microtubule

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 1 (CILD1) [MIM:244400]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Kartagener syndrome (KTGS) [MIM:244400]: An autosomal recessive disorder characterized by the association of primary ciliary dyskinesia with situs inversus. Clinical features include recurrent respiratory infections, bronchiectasis, infertility, and lateral transposition of the viscera of the thorax and abdomen. The situs inversus is most often total, although it can be partial in some cases (isolated dextrocardia or isolated transposition of abdominal viscera).1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti515 – 5151G → S in KTGS. 1 Publication
VAR_016775

Keywords - Diseasei

Ciliopathy, Disease mutation, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

MIMi244400. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA27407.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 699699Dynein intermediate chain 1, axonemalPRO_0000114658Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei131 – 1311Phosphoserine1 Publication
Modified residuei134 – 1341Phosphoserine1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9UI46.
PRIDEiQ9UI46.

PTM databases

PhosphoSiteiQ9UI46.

Expressioni

Gene expression databases

BgeeiQ9UI46.
CleanExiHS_DNAI1.
ExpressionAtlasiQ9UI46. baseline and differential.
GenevestigatoriQ9UI46.

Organism-specific databases

HPAiHPA021649.
HPA021843.

Interactioni

Subunit structurei

Consists of at least two heavy chains and a number of intermediate and light chains. Interacts with BICD2.1 Publication

Protein-protein interaction databases

BioGridi117957. 1 interaction.
STRINGi9606.ENSP00000242317.

Structurei

3D structure databases

ProteinModelPortaliQ9UI46.
SMRiQ9UI46. Positions 340-613.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati381 – 42141WD 1Add
BLAST
Repeati430 – 47344WD 2Add
BLAST
Repeati538 – 57841WD 3Add
BLAST
Repeati580 – 62041WD 4Add
BLAST
Repeati627 – 66640WD 5Add
BLAST

Sequence similaritiesi

Belongs to the dynein intermediate chain family.Curated
Contains 5 WD repeats.PROSITE-ProRule annotation

Keywords - Domaini

Repeat, WD repeat

Phylogenomic databases

eggNOGiNOG145991.
GeneTreeiENSGT00730000110228.
HOGENOMiHOG000231705.
HOVERGENiHBG005545.
InParanoidiQ9UI46.
KOiK10409.
OMAiYEAICNQ.
OrthoDBiEOG751NDV.
PhylomeDBiQ9UI46.
TreeFamiTF300553.

Family and domain databases

Gene3Di2.130.10.10. 1 hit.
InterProiIPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view]
PfamiPF00400. WD40. 1 hit.
[Graphical view]
SMARTiSM00320. WD40. 4 hits.
[Graphical view]
SUPFAMiSSF50978. SSF50978. 1 hit.
PROSITEiPS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9UI46) [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
MIPASAKAPH KQPHKQSISI GRGTRKRDED SGTEVGEGTD EWAQSKATVR
60 70 80 90 100
PPDQLELTDA ELKEEFTRIL TANNPHAPQN IVRYSFKEGT YKPIGFVNQL
110 120 130 140 150
AVHYTQVGNL IPKDSDEGRR QHYRDELVAG SQESVKVISE TGNLEEDEEP
160 170 180 190 200
KELETEPGSQ TDVPAAGAAE KVTEEELMTP KQPKERKLTN QFNFSERASQ
210 220 230 240 250
TYNNPVRDRE CQTEPPPRTN FSATANQWEI YDAYVEELEK QEKTKEKEKA
260 270 280 290 300
KTPVAKKSGK MAMRKLTSME SQTDDLIKLS QAAKIMERMV NQNTYDDIAQ
310 320 330 340 350
DFKYYDDAAD EYRDQVGTLL PLWKFQNDKA KRLSVTALCW NPKYRDLFAV
360 370 380 390 400
GYGSYDFMKQ SRGMLLLYSL KNPSFPEYMF SSNSGVMCLD IHVDHPYLVA
410 420 430 440 450
VGHYDGNVAI YNLKKPHSQP SFCSSAKSGK HSDPVWQVKW QKDDMDQNLN
460 470 480 490 500
FFSVSSDGRI VSWTLVKRKL VHIDVIKLKV EGSTTEVPEG LQLHPVGCGT
510 520 530 540 550
AFDFHKEIDY MFLVGTEEGK IYKCSKSYSS QFLDTYDAHN MSVDTVSWNP
560 570 580 590 600
YHTKVFMSCS SDWTVKIWDH TIKTPMFIYD LNSAVGDVAW APYSSTVFAA
610 620 630 640 650
VTTDGKAHIF DLAINKYEAI CNQPVAAKKN RLTHVQFNLI HPIIIVGDDR
660 670 680 690
GHIISLKLSP NLRKMPKEKK GQEVQKGPAV EIAKLDKLLN LVREVKIKT
Length:699
Mass (Da):79,283
Last modified:May 1, 2000 - v1
Checksum:iF7E2CF9D09A1F8BD
GO
Isoform 2 (identifier: Q9UI46-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     88-168: EGTYKPIGFV...SQTDVPAAGA → KQWSLGFIPK...LILIIIMQIR
     169-699: Missing.

Note: No experimental confirmation available

Show »
Length:168
Mass (Da):19,284
Checksum:i8C5AAF3156445AEB
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti202 – 2021Y → C in AAH30583. (PubMed:15489334)Curated
Sequence conflicti495 – 4951P → Q in AAH30583. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81A → S.2 Publications
Corresponds to variant rs11547035 [ dbSNP | Ensembl ].
VAR_016774
Natural varianti60 – 601A → V.
Corresponds to variant rs16931549 [ dbSNP | Ensembl ].
VAR_033876
Natural varianti326 – 3261Q → H.
Corresponds to variant rs16931555 [ dbSNP | Ensembl ].
VAR_033877
Natural varianti335 – 3351V → I.
Corresponds to variant rs11793196 [ dbSNP | Ensembl ].
VAR_033878
Natural varianti487 – 4871V → G.
Corresponds to variant rs11999454 [ dbSNP | Ensembl ].
VAR_033879
Natural varianti515 – 5151G → S in KTGS. 1 Publication
VAR_016775

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei88 – 16881EGTYK…PAAGA → KQWSLGFIPKLKRKIPVNYW GQDEGEISNETVRVIYSLGI FIMKIVTILLNINIEHLLCV RHCVNRLFLLFLILIIIMQI R in isoform 2. 1 PublicationVSP_056963Add
BLAST
Alternative sequencei169 – 699531Missing in isoform 2. 1 PublicationVSP_056964Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF091619 mRNA. Translation: AAF18570.1.
AF190496
, AF190477, AF190478, AF190479, AF190480, AF190481, AF190482, AF190483, AF190484, AF190485, AF190486, AF190487, AF190488, AF190489, AF190490, AF190491, AF190492, AF190493, AF190494, AF190495 Genomic DNA. Translation: AAF19816.1.
AK302499 mRNA. Translation: BAH13727.1.
AL160270 Genomic DNA. Translation: CAI13155.1.
BC030583 mRNA. Translation: AAH30583.1.
CCDSiCCDS6557.1.
RefSeqiNP_001268357.1. NM_001281428.1.
NP_036276.1. NM_012144.3.
UniGeneiHs.112667.

Genome annotation databases

EnsembliENST00000242317; ENSP00000242317; ENSG00000122735.
GeneIDi27019.
KEGGihsa:27019.
UCSCiuc003zum.3. human.

Polymorphism databases

DMDMi12643888.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF091619 mRNA. Translation: AAF18570.1 .
AF190496
, AF190477 , AF190478 , AF190479 , AF190480 , AF190481 , AF190482 , AF190483 , AF190484 , AF190485 , AF190486 , AF190487 , AF190488 , AF190489 , AF190490 , AF190491 , AF190492 , AF190493 , AF190494 , AF190495 Genomic DNA. Translation: AAF19816.1 .
AK302499 mRNA. Translation: BAH13727.1 .
AL160270 Genomic DNA. Translation: CAI13155.1 .
BC030583 mRNA. Translation: AAH30583.1 .
CCDSi CCDS6557.1.
RefSeqi NP_001268357.1. NM_001281428.1.
NP_036276.1. NM_012144.3.
UniGenei Hs.112667.

3D structure databases

ProteinModelPortali Q9UI46.
SMRi Q9UI46. Positions 340-613.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 117957. 1 interaction.
STRINGi 9606.ENSP00000242317.

PTM databases

PhosphoSitei Q9UI46.

Polymorphism databases

DMDMi 12643888.

Proteomic databases

PaxDbi Q9UI46.
PRIDEi Q9UI46.

Protocols and materials databases

DNASUi 27019.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000242317 ; ENSP00000242317 ; ENSG00000122735 .
GeneIDi 27019.
KEGGi hsa:27019.
UCSCi uc003zum.3. human.

Organism-specific databases

CTDi 27019.
GeneCardsi GC09P034448.
GeneReviewsi DNAI1.
HGNCi HGNC:2954. DNAI1.
HPAi HPA021649.
HPA021843.
MIMi 244400. phenotype.
604366. gene.
neXtProti NX_Q9UI46.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA27407.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG145991.
GeneTreei ENSGT00730000110228.
HOGENOMi HOG000231705.
HOVERGENi HBG005545.
InParanoidi Q9UI46.
KOi K10409.
OMAi YEAICNQ.
OrthoDBi EOG751NDV.
PhylomeDBi Q9UI46.
TreeFami TF300553.

Enzyme and pathway databases

SignaLinki Q9UI46.

Miscellaneous databases

ChiTaRSi DNAI1. human.
GeneWikii DNAI1.
GenomeRNAii 27019.
NextBioi 49540.
PROi Q9UI46.
SOURCEi Search...

Gene expression databases

Bgeei Q9UI46.
CleanExi HS_DNAI1.
ExpressionAtlasi Q9UI46. baseline and differential.
Genevestigatori Q9UI46.

Family and domain databases

Gene3Di 2.130.10.10. 1 hit.
InterProi IPR015943. WD40/YVTN_repeat-like_dom.
IPR001680. WD40_repeat.
IPR017986. WD40_repeat_dom.
[Graphical view ]
Pfami PF00400. WD40. 1 hit.
[Graphical view ]
SMARTi SM00320. WD40. 4 hits.
[Graphical view ]
SUPFAMi SSF50978. SSF50978. 1 hit.
PROSITEi PS50082. WD_REPEATS_2. 1 hit.
PS50294. WD_REPEATS_REGION. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia."
    Pennarun G., Escudier E., Chapelin C., Bridoux A.-M., Cacheux V., Roger G., Clement A., Goossens M., Amselem S., Duriez B.
    Am. J. Hum. Genet. 65:1508-1519(1999) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
    Tissue: Testis and Trachea.
  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 2).
    Tissue: Testis.
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] (ISOFORM 1), VARIANT SER-8.
    Tissue: Testis.
  5. "Phosphoproteome analysis of capacitated human sperm. Evidence of tyrosine phosphorylation of a kinase-anchoring protein 3 and valosin-containing protein/p97 during capacitation."
    Ficarro S., Chertihin O., Westbrook V.A., White F., Jayes F., Kalab P., Marto J.A., Shabanowitz J., Herr J.C., Hunt D.F., Visconti P.E.
    J. Biol. Chem. 278:11579-11589(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-131 AND SER-134, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Sperm.
  6. "Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance."
    Peeters K., Litvinenko I., Asselbergh B., Almeida-Souza L., Chamova T., Geuens T., Ydens E., Zimon M., Irobi J., De Vriendt E., De Winter V., Ooms T., Timmerman V., Tournev I., Jordanova A.
    Am. J. Hum. Genet. 92:955-964(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INTERACTION WITH BICD2.
  7. "Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome)."
    Guichard C., Harricane M.-C., Lafitte J.-J., Godard P., Zaegel M., Tack V., Lalau G., Bouvagnet P.
    Am. J. Hum. Genet. 68:1030-1035(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SER-8, VARIANT KTGS SER-515.

Entry informationi

Entry nameiDNAI1_HUMAN
AccessioniPrimary (citable) accession number: Q9UI46
Secondary accession number(s): B7Z7U1
, Q5T8G7, Q8NHQ7, Q9UEZ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 11, 2001
Last sequence update: May 1, 2000
Last modified: October 29, 2014
This is version 120 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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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