Reviewed,
UniProtKB/Swiss-Prot O60333 (KIF1B_HUMAN)
Last modified
November 25, 2008.
Version 94.
History...
Clusters with 100%,
90%,
50% identity |
Documents (5) |
Third-party data |
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Names and origin
| Protein names | Recommended name: Kinesin-like protein KIF1B Short name=Klp | ||||
| Gene names |
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| 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. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Motor for anterograde transport of mitochondria. Has a microtubule plus end-directed motility. |
| Subunit structure | Interacts with KBP. |
| Subcellular location | Cytoplasmic vesicleBy similarity. Cytoplasm › cytoskeletonBy similarity. Mitochondrion. |
| 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. |
| 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. |
| 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. |
Ontologies
Binary interactions
With | Entry | #Exp. | IntAct | Notes |
|---|---|---|---|---|
| DLG1 | Q12959 | 1 | EBI-465669,EBI-357481 | |
| DLG4 | P78352 | 1 | EBI-465669,EBI-80389 | |
| MAGI1 | Q96QZ7 | 1 | 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 | ||||||
| Modified residue | 1454 | 1 | Phosphoserine | ||||||
| Modified residue | 1487 | 1 | Phosphoserine | ||||||
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 | 98 | 1 | Q → L in CMT2A1. | VAR_011515 | |||||
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 | ||||||
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.< |

Clusters with