O60333 (KIF1B_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
January 25, 2012.
Version 129.
History...
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Kinesin-like protein KIF1B Short name=Klp | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 1816 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. Isoform 2 is required for induction of neuronal apoptosis. Ref.15 |
| Subunit structure | Interacts with KBP. Ref.13 |
| Subcellular location | Cytoplasmic vesicle By similarity. Cytoplasm › cytoskeleton By similarity. Mitochondrion Ref.13. |
| Tissue specificity | Isoform 3 is abundant in the skeletal muscle. It is also expressed in fetal brain, lung and kidney, and adult heart, placenta, testis, ovary and small intestine. Isoform 2 is abundant in the brain and also expressed in fetal heart, lung, liver and kidney, and adult skeletal muscle, placenta, liver, kidney, heart, spleen, thymus, prostate, testis, ovary, small intestine, colon and pancreas. Ref.2 Ref.3 Ref.5 |
| Involvement in disease | Defects in KIF1B are the cause of Charcot-Marie-Tooth disease type 2A1 (CMT2A1) [MIM:118210]. CMT2A1 is a form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT2 group are characterized by signs of axonal regeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Ref.20 Defects in KIF1B are the cause of susceptibility to neuroblastoma type 1 (NBLST1) [MIM:256700]. A common neoplasm of early childhood arising from embryonic cells that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system. Defects in KIF1B are a cause of susceptibility to pheochromocytoma (PCC) [MIM:171300]. A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. |
| Sequence similarities | Belongs to the kinesin-like protein family. Unc-104 subfamily. Contains 1 FHA domain. Contains 1 kinesin-motor domain. Contains 1 PH domain. |
| Sequence caution | The sequence AAH01415.1 differs from that shown. Reason: Erroneous initiation. The sequence AAP35838.1 differs from that shown. Reason: Erroneous initiation. The sequence BAA25517.2 differs from that shown. Reason: Erroneous initiation. The sequence BAA95972.2 differs from that shown. Reason: Erroneous initiation. The sequence BAB69038.1 differs from that shown. Reason: Erroneous initiation. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| DLG1 | Q12959 | 4 | EBI-465669,EBI-357481 | |
| Dlg2 | Q63622 | 3 | EBI-465669,EBI-396947 | From a different organism. |
| DLG4 | P78352 | 4 | EBI-465669,EBI-80389 | |
| MAGI1 | Q96QZ7 | 3 | EBI-465669,EBI-924464 |
Alternative products
| This entry describes 4 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: O60333-1) 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. | ||||||
| Isoform 2 (identifier: O60333-2) Also known as: Beta; The sequence of this isoform differs from the canonical sequence as follows: 289-294: Missing. 394-434: IDPLIDDYSGSGSKYLKDFQNNKHRYLLASENQRPGHFSTA → T | ||||||
| Isoform 3 (identifier: O60333-3) Also known as: Alpha; The sequence of this isoform differs from the canonical sequence as follows: 289-294: Missing. 394-434: IDPLIDDYSGSGSKYLKDFQNNKHRYLLASENQRPGHFSTA → T 707-1196: YESKLQALQK...KPIVFEVFGH → ADSDSGDDSD...NLKAGRETTV 1197-1816: Missing. | ||||||
| Isoform 4 (identifier: O60333-4) The sequence of this isoform differs from the canonical sequence as follows: 1804-1816: SKLSRRCPSQSKY → PGHLASEIIREDKSVSFSCQ |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | |||||||||||||||||||||||
Molecule processing | ||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1816 | 1816 | Kinesin-like protein KIF1B | PRO_0000125407 | ||||||||||||||||||||||||
Regions | ||||||||||||||||||||||||||||
| Domain | 1 – 361 | 361 | Kinesin-motor | |||||||||||||||||||||||||
| Domain | 556 – 612 | 57 | FHA | |||||||||||||||||||||||||
| Domain | 1702 – 1799 | 98 | PH | |||||||||||||||||||||||||
| Nucleotide binding | 97 – 104 | 8 | ATP By similarity | |||||||||||||||||||||||||
| Region | 270 – 350 | 81 | Interaction with KBP | |||||||||||||||||||||||||
| Coiled coil | 365 – 386 | 22 | Potential | |||||||||||||||||||||||||
| Coiled coil | 470 – 502 | 33 | Potential | |||||||||||||||||||||||||
| Coiled coil | 668 – 737 | 70 | Potential | |||||||||||||||||||||||||
| Coiled coil | 841 – 869 | 29 | Potential | |||||||||||||||||||||||||
Amino acid modifications | ||||||||||||||||||||||||||||
| Modified residue | 1057 | 1 | Phosphoserine Ref.12 Ref.16 Ref.17 | |||||||||||||||||||||||||
| Modified residue | 1075 | 1 | Phosphothreonine Ref.18 | |||||||||||||||||||||||||
| Modified residue | 1454 | 1 | Phosphoserine Ref.12 | |||||||||||||||||||||||||
| Modified residue | 1487 | 1 | Phosphoserine Ref.14 Ref.16 Ref.18 | |||||||||||||||||||||||||
Natural variations | ||||||||||||||||||||||||||||
| Alternative sequence | 289 – 294 | 6 | Missing in isoform 2 and isoform 3. | VSP_002858 | ||||||||||||||||||||||||
| Alternative sequence | 394 – 434 | 41 | IDPLI…HFSTA → T in isoform 2 and isoform 3. | VSP_002859 | ||||||||||||||||||||||||
| Alternative sequence | 707 – 1196 | 490 | YESKL…EVFGH → ADSDSGDDSDKRSCEESWKL ITSLREKLPPSKLQTIVKKC GLPSSGKKREPIKMYQIPQR RRLSKDSKWVTISDLKIQAV KEICYEVALNDFRHSRQEIE ALAIVKMKELCAMYGKKDPN ERDSWRAVARDVWDTVGVGD EKIEDVMATGKGSTDVDDLK VHIDKLEDILQEVKKQNNMK DEEIKVLRNKMLKMEKVLPL IGSQEQKSPGSHKAKEPVGA GVSSTSENNVSKGDNGELAK EERVSQLMNGDPAFRRGRLR WMRQEQIRFKNLQQQEITKQ LRRQNVPHRFIPPENRKPRF PFKSNPKHRNSWSPGTHIII TEDEVIELRIPKDDEARKGN KEESQEKGGKGAFKDPQFPW GSQGMRSQDHIQVSKQHINN QQQPPQLRWRSNSLNNGQPK STRCQASASAESLNSHSGHP TADVQTFQAKRHIHQHRQSY CNYNTGGQLEGNAATSYQKQ TDKPSHCSQFVTPPRMRRQF SAPNLKAGRETTV in isoform 3. | VSP_002860 | ||||||||||||||||||||||||
| Alternative sequence | 1197 – 1816 | 620 | Missing in isoform 3. | VSP_002861 | ||||||||||||||||||||||||
| Alternative sequence | 1804 – 1816 | 13 | SKLSR…SQSKY → PGHLASEIIREDKSVSFSCQ in isoform 4. | VSP_009381 | ||||||||||||||||||||||||
| Natural variant | 34 | 1 | S → L in a medulloblastoma sample; somatic mutation; loss of ability to induce apoptosis. Ref.15 | VAR_063531 | ||||||||||||||||||||||||
| Natural variant | 98 | 1 | Q → L in CMT2A1. Ref.20 | VAR_011515 | ||||||||||||||||||||||||
| Natural variant | 692 | 1 | E → V Confers susceptibility to neuroblastoma; found as germline mutation in a neuroblastoma patient; loss of ability to induce apoptosis. Ref.15 | VAR_063532 | ||||||||||||||||||||||||
| Natural variant | 873 | 1 | T → I Confers susceptibility to neuroblastoma; found as germline mutation in a neuroblastoma patient; loss of ability to induce apoptosis. Ref.15 | VAR_063533 | ||||||||||||||||||||||||
| Natural variant | 1133 | 1 | Y → C. Ref.15 | VAR_063534 | ||||||||||||||||||||||||
| Natural variant | 1263 | 1 | P → S Confers susceptibility to neuroblastoma; found as germline mutation in a neuroblastoma patient; loss of ability to induce apoptosis. Ref.15 | VAR_063535 | ||||||||||||||||||||||||
| Natural variant | 1527 | 1 | S → N Confers susceptibility to pheochromocytoma; found as germline mutation in a pheochromocytoma family; loss of ability to induce apoptosis. Ref.15 | VAR_063536 | ||||||||||||||||||||||||
| Natural variant | 1600 | 1 | V → M. Ref.15 | VAR_063537 | ||||||||||||||||||||||||
| Natural variant | 1674 | 1 | E → K in a pheochromocytoma sample; loss of ability to induce apoptosis. Ref.15 | VAR_063538 | ||||||||||||||||||||||||
Experimental info | ||||||||||||||||||||||||||||
| Sequence conflict | 87 | 1 | E → G in BAA25517. Ref.7 | |||||||||||||||||||||||||
| Sequence conflict | 129 – 131 | 3 | KIN → TNH in AAK49332. Ref.3 | |||||||||||||||||||||||||
| Sequence conflict | 129 – 131 | 3 | KIN → TNH in AAK85155. Ref.4 | |||||||||||||||||||||||||
| Sequence conflict | 129 – 131 | 3 | KIN → TNH in AAN17742. Ref.5 | |||||||||||||||||||||||||
| Sequence conflict | 170 | 1 | E → D in AAK49332. Ref.3 | |||||||||||||||||||||||||
| Sequence conflict | 170 | 1 | E → D in AAK85155. Ref.4 | |||||||||||||||||||||||||
| Sequence conflict | 170 | 1 | E → D in AAN17742. Ref.5 | |||||||||||||||||||||||||
| Sequence conflict | 174 | 1 | L → R in AAK49332. Ref.3 | |||||||||||||||||||||||||
| Sequence conflict | 174 | 1 | L → R in AAK85155. Ref.4 | |||||||||||||||||||||||||
| Sequence conflict | 174 | 1 | L → R in AAN17742. Ref.5 | |||||||||||||||||||||||||
| Sequence conflict | 219 – 221 | 3 | AVF → VVY in AAK49332. Ref.3 | |||||||||||||||||||||||||
| Sequence conflict | 219 – 221 | 3 | AVF → VVY in AAK85155. Ref.4 | |||||||||||||||||||||||||
| Sequence conflict | 219 – 221 | 3 | AVF → VVY in AAN17742. Ref.5 | |||||||||||||||||||||||||
| Sequence conflict | 235 – 239 | 5 | NLSTE → ILATV in AAK49332. Ref.3 | |||||||||||||||||||||||||
| Sequence conflict | 235 – 239 | 5 | NLSTE → ILATV in AAK85155. Ref.4 | |||||||||||||||||||||||||
| Sequence conflict | 235 – 239 | 5 | NLSTE → ILATV in AAN17742. Ref.5 | |||||||||||||||||||||||||
| Sequence conflict | 244 | 1 | I → T in AAK49332. Ref.3 | |||||||||||||||||||||||||
| Sequence conflict | 244 | 1 | I → T in AAK85155. Ref.4 | |||||||||||||||||||||||||
| Sequence conflict | 244 | 1 | I → T in AAN17742. Ref.5 | |||||||||||||||||||||||||
| Sequence conflict | 253 | 1 | E → D in AAK49332. Ref.3 | |||||||||||||||||||||||||
| Sequence conflict | 253 | 1 | E → D in AAK85155. Ref.4 | |||||||||||||||||||||||||
| Sequence conflict | 253 | 1 | E → D in AAN17742. Ref.5 | |||||||||||||||||||||||||
| Sequence conflict | 256 | 1 | D → A in AAK49332. Ref.3 | |||||||||||||||||||||||||
| Sequence conflict | 256 | 1 | D → A in AAK85155. Ref.4 | |||||||||||||||||||||||||
| Sequence conflict | 256 | 1 | D → A in AAN17742. Ref.5 | |||||||||||||||||||||||||
| Sequence conflict | 270 | 1 | N → I in AAK49332. Ref.3 | |||||||||||||||||||||||||
| Sequence conflict | 270 | 1 | N → I in AAK85155. Ref.4 | |||||||||||||||||||||||||
| Sequence conflict | 270 | 1 | N → I in AAN17742. Ref.5 | |||||||||||||||||||||||||
| Sequence conflict | 363 | 1 | D → G in BAB69038. Ref.2 | |||||||||||||||||||||||||
Secondary structure | ||||||||||||||||||||||||||||
Helix Strand Turn | ||||||||||||||||||||||||||||
| Beta strand | 533 – 535 | 3 | ||||||||||||||||||||||||||
| Beta strand | 547 – 550 | 4 | ||||||||||||||||||||||||||
| Beta strand | 556 – 558 | 3 | ||||||||||||||||||||||||||
| Beta strand | 563 – 565 | 3 | ||||||||||||||||||||||||||
| Beta strand | 580 – 587 | 8 | ||||||||||||||||||||||||||
| Beta strand | 593 – 597 | 5 | ||||||||||||||||||||||||||
| Beta strand | 601 – 603 | 3 | ||||||||||||||||||||||||||
| Beta strand | 633 – 635 | 3 | ||||||||||||||||||||||||||
| Helix | 637 – 640 | 4 | ||||||||||||||||||||||||||
| Turn | 641 – 645 | 5 | ||||||||||||||||||||||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "DNA encoding a kinesin-like protein (hklp) comprising biallelic markers." Bougueleret L., Dufaure-Gare I., Grel P. Patent number WO0063375, 26-OCT-2000 Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1). |
| [2] | "Identification of the full-length KIAA0591 gene encoding a novel kinesin-related protein which is mapped to the neuroblastoma suppressor gene locus at 1p36.2." Nagai M., Ichimiya S., Ozaki T., Seki N., Mihara M., Furuta S., Ohira M., Tomioka N., Nomura N., Sakiyama S., Kubo O., Takakura K., Hori T., Nakagawara A. Int. J. Oncol. 16:907-916(2000) [PubMed: 10762626] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), TISSUE SPECIFICITY. Tissue: Substantia nigra. |
| [3] | "Genomic structure and mutational analysis of the human KIF1B gene which is homozygously deleted in neuroblastoma at chromosome 1p36.2." Yang H.W., Chen Y.Z., Takita J., Soeda E., Piao H.Y., Hayashi Y. Oncogene 20:5075-5083(2001) [PubMed: 11526494] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2), TISSUE SPECIFICITY. |
| [4] | "Identification of the human ortholog of mouse Kif1B, a kinesin superfamily motor protein." Park M., Shin H., Lee Y.M., Moon E., Choi W., Kim W. Submitted (JUL-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3). |
| [5] | "Genomic structure and mutational analysis of the human KIF1Balpha gene located at 1p36.2 in neuroblastoma." Chen Y.Y., Takita J., Chen Y.Z., Yang H.W., Hanada R., Yamamoto K., Hayashi Y. Int. J. Oncol. 23:737-744(2003) [PubMed: 12888911] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3), TISSUE SPECIFICITY. Tissue: Neuroblastoma. |
| [6] | "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro." Nagase T., Ishikawa K., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 5:31-39(1998) [PubMed: 9628581] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain. |
| [7] | "Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O. DNA Res. 7:143-150(2000) [PubMed: 10819331] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain. |
| [8] | "The DNA sequence and biological annotation of human chromosome 1." Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. Bentley D.R.Nature 441:315-321(2006) [PubMed: 16710414] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [9] | "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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1238-1816 (ISOFORMS 1/2). Tissue: Placenta. |
| [10] | "Cloning of human full-length CDSs in BD Creator(TM) system donor vector." Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1238-1816 (ISOFORMS 1/2). |
| [11] | "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. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1449-1816 (ISOFORMS 1/2). |
| [12] | "Large-scale characterization of HeLa cell nuclear phosphoproteins." Beausoleil S.A., Jedrychowski M., Schwartz D., Elias J.E., Villen J., Li J., Cohn M.A., Cantley L.C., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 101:12130-12135(2004) [PubMed: 15302935] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1057 AND SER-1454, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [13] | "The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein." Wozniak M.J., Melzer M., Dorner C., Haring H.U., Lammers R. BMC Cell Biol. 6:35-35(2005) [PubMed: 16225668] [Abstract] Cited for: INTERACTION WITH KBP, SUBCELLULAR LOCATION. |
| [14] | "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1487, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [15] | "The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor." Schlisio S., Kenchappa R.S., Vredeveld L.C., George R.E., Stewart R., Greulich H., Shahriari K., Nguyen N.V., Pigny P., Dahia P.L., Pomeroy S.L., Maris J.M., Look A.T., Meyerson M., Peeper D.S., Carter B.D., Kaelin W.G. Jr. Genes Dev. 22:884-893(2008) [PubMed: 18334619] [Abstract] Cited for: FUNCTION, INVOLVEMENT IN NEUROBLASTOMA AND PHEOCHROMOCYTOMA, VARIANTS LEU-34; VAL-692; ILE-873; CYS-1133; SER-1263; ASN-1527; MET-1600 AND LYS-1674. |
| [16] | "A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1057 AND SER-1487, MASS SPECTROMETRY. Tissue: Cervix carcinoma. |
| [17] | "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1057, MASS SPECTROMETRY. Tissue: Embryonic kidney. |
| [18] | "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-1075 AND SER-1487, MASS SPECTROMETRY. Tissue: Leukemic T-cell. |
| [19] | "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. |
| [20] | "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1B-beta." Zhao C., Takita J., Tanaka Y., Setou M., Nakagawa T., Takeda S., Yang H.W., Terada S., Nakata T., Takei Y., Saito M., Tsuji S., Hayashi Y., Hirokawa N. Cell 105:587-597(2001) [PubMed: 11389829] [Abstract] Cited for: VARIANT CMT2A1 LEU-98. |
| + | Additional computationally mapped references. |
Web resources
Cross-references
Sequence databases | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| EMBL GenBank DDBJ | AX039604 Genomic DNA. Translation: CAC16629.1. AB017133 mRNA. Translation: BAB69038.1. Different initiation. AF257176 mRNA. Translation: AAK49332.1. AY043362 mRNA. Translation: AAK85155.1. AY139835 mRNA. Translation: AAN17742.1. AB011163 mRNA. Translation: BAA25517.2. Different initiation. AB040881 mRNA. Translation: BAA95972.2. Different initiation. AL139424, AL358013 Genomic DNA. Translation: CAI95752.1. AL139424, AL358013 Genomic DNA. Translation: CAI95753.1. AL358013, AL139424 Genomic DNA. Translation: CAI95219.1. AL358013, AL139424 Genomic DNA. Translation: CAI95220.1. AL358013 Genomic DNA. Translation: CAI95222.1. BC001415 mRNA. Translation: AAH01415.1. Different initiation. BC115395 mRNA. Translation: AAI15396.1. BT007174 mRNA. Translation: AAP35838.1. Different initiation. AK022977 mRNA. Translation: BAB14341.1. | ||||||||||||
| IPI | IPI00029011. IPI00216252. IPI00397383. IPI00411763. | ||||||||||||
| RefSeq | NP_055889.2. NM_015074.3. NP_904325.2. NM_183416.3. | ||||||||||||
| UniGene | Hs.97858. | ||||||||||||
3D structure databases | |||||||||||||
| PDBe RCSB PDB PDBj |
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| ProteinModelPortal | O60333. | ||||||||||||
| SMR | O60333. Positions 4-353, 531-647, 1699-1798. | ||||||||||||
| ModBase | Search... | ||||||||||||
Protein-protein interaction databases | |||||||||||||
| DIP | DIP-33015N. | ||||||||||||
| IntAct | O60333. 14 interactions. | ||||||||||||
| MINT | MINT-1682229. | ||||||||||||
| STRING | O60333. | ||||||||||||
PTM databases | |||||||||||||
| PhosphoSite | O60333. | ||||||||||||
Proteomic databases | |||||||||||||
| PRIDE | O60333. | ||||||||||||
Protocols and materials databases | |||||||||||||
| StructuralBiologyKnowledgebase | Search... | ||||||||||||
Genome annotation databases | |||||||||||||
| Ensembl | ENST00000353409; ENSP00000263935; ENSG00000054523. ENST00000377086; ENSP00000366290; ENSG00000054523. | ||||||||||||
| GeneID | 23095. | ||||||||||||
| KEGG | hsa:23095. | ||||||||||||
| UCSC | uc001aqx.2. human. | ||||||||||||
Organism-specific databases | |||||||||||||
| CTD | 23095. | ||||||||||||
| GeneCards | GC01P010270. | ||||||||||||
| H-InvDB | HIX0000111. | ||||||||||||
| HGNC | HGNC:16636. KIF1B. | ||||||||||||
| HPA | CAB015177. HPA026434. | ||||||||||||
| MIM | 118210. phenotype. 171300. phenotype. 256700. phenotype. 605995. gene. | ||||||||||||
| neXtProt | NX_O60333. | ||||||||||||
| Orphanet | 99946. Autosomal dominant Charcot-Marie-Tooth disease type 2A1. | ||||||||||||
| PharmGKB | PA38176. | ||||||||||||
| HUGE | Search... Search... | ||||||||||||
| GenAtlas | Search... | ||||||||||||
Phylogenomic databases | |||||||||||||
| eggNOG | prNOG09838. | ||||||||||||
| GeneTree | ENSGT00570000078823. | ||||||||||||
| HOVERGEN | HBG052251. | ||||||||||||
| OMA | RMNDLDL. | ||||||||||||
| PhylomeDB | O60333. | ||||||||||||
Gene expression databases | |||||||||||||
| ArrayExpress | O60333. | ||||||||||||
| Bgee | O60333. | ||||||||||||
| CleanEx | HS_KIF1B. | ||||||||||||
| Genevestigator | O60333. | ||||||||||||
| GermOnline | ENSG00000054523. Homo sapiens. | ||||||||||||
Family and domain databases | |||||||||||||
| InterPro | IPR000253. FHA_dom. IPR022140. KIF1B. IPR022164. Kinesin-like. IPR019821. Kinesin_motor_CS. IPR001752. Kinesin_motor_dom. IPR011993. PH_type. IPR001849. Pleckstrin_homology. IPR008984. SMAD_FHA_domain. [Graphical view] | ||||||||||||
| Gene3D | G3DSA:2.60.200.20. FHA. 1 hit. G3DSA:3.40.850.10. kinesin_motor. 1 hit. G3DSA:2.30.29.30. PH_type. 1 hit. | ||||||||||||
| KO | K10392. | ||||||||||||
| Pfam | PF12473. DUF3694. 1 hit. PF00498. FHA. 1 hit. PF12423. KIF1B. 1 hit. PF00225. Kinesin. 1 hit. PF00169. PH. 1 hit. [Graphical view] | ||||||||||||
| PRINTS | PR00380. KINESINHEAVY. | ||||||||||||
| SMART | SM00240. FHA. 1 hit. SM00129. KISc. 1 hit. SM00233. PH. 1 hit. [Graphical view] | ||||||||||||
| SUPFAM | SSF49879. SMAD_FHA. 1 hit. | ||||||||||||
| PROSITE | PS50006. FHA_DOMAIN. 1 hit. PS00411. KINESIN_MOTOR_DOMAIN1. 1 hit. PS50067. KINESIN_MOTOR_DOMAIN2. 1 hit. PS50003. PH_DOMAIN. 1 hit. [Graphical view] | ||||||||||||
| ProtoNet | Search... | ||||||||||||
Other | |||||||||||||
| SOURCE | Search... | ||||||||||||
Entry information
| Entry name | KIF1B_HUMAN | ||||||||
| Accession | Primary (citable) accession number: O60333 Secondary accession number(s): A6NFS8 Q9P280 | ||||||||
| Entry history |
| ||||||||
| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any 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. | ||||||||
Relevant documents
| Human chromosome 1 Human chromosome 1: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| PDB cross-references Index of Protein Data Bank (PDB) cross-references |
| SIMILARITY comments Index of protein domains and families |

Clusters with