1. Gene
  2. KIF21A - kinesin family member 21A Gene

KIF21A - kinesin family member 21A Gene

中文名称:驱动蛋白家族成员 21A

种属: Homo sapiens

同用名: FEOM1; CFEOM1; FEOM3A

基因 ID: 55605 | 基因类型: protein coding

关于 KIF21A

Cytogenetic location: 12q12 Genomic coordinates (GRCh38): 12:39,293,228-39,443,120 (from NCBI)

This gene has 14 transcripts (splice variants), 287 orthologues, 41 paralogues and is associated with 4 phenotypes. Broad expression in brain (RPKM 25.3), kidney (RPKM 9.6) and 22 other tissues.

功能概要

该基因编码驱动蛋白样运动蛋白 KIF4 亚家族的成员。编码的蛋白质的特征在于 N 端运动结构域、卷曲螺旋茎结构域和 C 端 WD-40 重复结构域。该蛋白可能参与微管依赖性运输。该基因的突变是导致先天性眼外肌纤维化的原因-1。交替剪接导致多个转录变体。[RefSeq 提供,2010 年 3 月]

This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

KIF21A 基因产物(7)

mRNA Protein Name
NM_001173463.2 NP_001166934.1 kinesin-like protein KIF21A isoform 3
NM_001173464.2 NP_001166935.1 kinesin-like protein KIF21A isoform 1
NM_001173465.2 NP_001166936.1 kinesin-like protein KIF21A isoform 4
NM_001378439.1 NP_001365368.1 kinesin-like protein KIF21A isoform 5
NM_001378440.1 NP_001365369.1 kinesin-like protein KIF21A isoform 6
NM_001378441.1 NP_001365370.1 kinesin-like protein KIF21A isoform 7
NM_017641.4 NP_060111.2 kinesin-like protein KIF21A isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ankyrin repeat binding IPI
IPI: 通过物理相互作用推断
29183992 GOA
enables plus-end-directed microtubule motor activity IDA
IDA: 通过直接分析推断
24120883 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19020088 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cortical microtubule organization IMP
IMP: 通过突变表型推断
24120883 GOA
involved in regulation of axon guidance IMP
IMP: 通过突变表型推断
24120883 GOA
involved in regulation of microtubule depolymerization IMP
IMP: 通过突变表型推断
24120883 GOA
involved in regulation of microtubule polymerization IMP
IMP: 通过突变表型推断
24120883 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axonal growth cone IDA
IDA: 通过直接分析推断
24120883 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

KIF21A 蛋白结构

Kinesin

Kinesin: Kinesin motor domain (15 - 371)

WD40

WD40: WD domain, G-beta repeat (1338 - 1373)

WD40

WD40: WD domain, G-beta repeat (1485 - 1523)

WD40

WD40: WD domain, G-beta repeat (1578 - 1612)

WD40

WD40: WD domain, G-beta repeat (1618 - 1652)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1674 a.a.
蛋白主名 其他名称

kinesin-like protein KIF21A

kinesin-like protein KIF2

KIF21A 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
KIF21A Q7Z4S6 ARFGEF1 Homo sapiens Q9Y6D6
Anti Bait CoIP
19020088
种属内
KIF21A Q7Z4S6 ARFGEF1 Homo sapiens Q9Y6D6
GMS
19020088
种属内
KIF21A Q7Z4S6 ARFGEF1 Homo sapiens Q9Y6D6
Anti Tag CoIP
22084092
种属内
KIF21A Q7Z4S6 KANK1 Homo sapiens Q14678
Anti Tag CoIP
26496610
种属内
KIF21A Q7Z4S6 KANK1 Homo sapiens Q14678
Anti Bait CoIP
19559006
种属内
KIF21A Q7Z4S6 KANK1 Homo sapiens Q14678
Pull Down
19559006
种属内
KIF21A Q7Z4S6 KANK1 Homo sapiens Q14678
Anti Tag CoIP
22084092
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Fibrosis Of Extraocular Muscles, Congenital, 1

Fibrosis Of Extraocular Muscles, Congenital, 3b

CFEOM1

Blepharoptosis With Absent Eye Movements

Congenital Fibrosis Of The Extraocular Muscles 1

Congenital Fibrosis Of Extraocular Muscles Type 1

Fibrosis

Ophthalmoplegia, Congenital

Feom1 Locus

Congenital Ophthalmoplegia

Feom1

CFEOM3B

Fibrosis, Extraocular Muscles, Congenital, Type 1

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of The Extraocular Muscles

Congenital Fibrosis Of Extraocular Muscles

Cfeom

Feom

Congenital External Ophthalmoplegia

Congenital Fibrosis Syndrome

General Fibrosis Syndrome

Ocular Motility Disease

Ocular Motility Disorders

Abnormality Of Eye Movement

Disorder Of Eye Movements

Eye Movement Disorder

Eye Movement Disorders

Fibrosis Of Extraocular Muscles, Congenital, 2

CFEOM2

Feom2 Locus

Fibrosis Of Extraocular Muscles, Congenital, Autosomal Recessive

Congenital Fibrosis Of The Extraocular Muscles 2

Congenital Fibrosis Of Extraocular Muscles Autosomal Recessive

Exotropic Strabismus Fixus

Feom2

Fibrosis, Extraocular Muscles, Congenital, Type 2

Hypotropia
Paralytic Squint

Paralytic Strabismus

Incomitant Dissociation

Hypertropia
Tukel Syndrome

Cfeom-U

Congenital Fibrosis Of The Extraocular Muscles 4

Fibrosis Of Extraocular Muscles, Congenital, With Ulnar Hand Anomalies

Fibrosis Of Extraocular Muscles, Congenital, 4

Cfeom4

Congenital Extraocular Muscle Fibrosis With Ulnar Hand Anomalies

Congenital Fibrosis Of The Extraocular Muscles

Third Cranial Nerve Disease

Disorder Of Oculomotor Nerve

Oculomotor Nerve Disorder

Oculomotor Nerve Paralysis

Third Cranial Nerve Disorder

Myotonic Cataract
Microphthalmia, Isolated 5

Isolated Microphthalmia 5

MCOP5

Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen

Microphthalmia-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome

Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disc Drusen

Nanophthalmos-Retinitis Pigmentosa-Foveoschisis-Optic Disc Drusen Syndrome

Microphthalmia, Isolated, 5

Microphthalmia Mfrp-Related

Posterior Microphthalmia With Retinitis Pigmentosa, Foveoschisis And Optic Disk Drusen

Microphthalmia, Isolated, Type 5

Exotropia

Divergent Concomitant Strabismus

Divergent Strabismus

Divergent Squint

External Strabismus

Xt - [Exotropia]

Congenital Ptosis

Congenital Blepharoptosis

Congenital Eyelid Ptosis

Ptosis

Blepharoptosis

Drooping Eyelid

Droopy Eyelid

Ptosis Of Eyelid

Paralysis Of Levator Palpebrae Superioris

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Marcus Gunn Phenomenon

Jaw-Winking Syndrome

Marcus-Gunn Syndrome

Jaw-Winking

Maxillopalpebral Synkinesis

Abnormal Innervation Syndrome Of Eyelid

Jaw-Blinking

Pterygoid-Levator Synkinesis

Familial Marcus Gunn Phenomenon

Marcus Gunn Syndrome

Mandibulo-Palpebral Synkinesis-Ptosis Syndrome

Marcus-Gunn Phenomenon

Kearns-Sayre Syndrome

Ophthalmoplegia

Mitochondrial Cytopathy

KSS

Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy

Oculocraniosomatic Syndrome

Chronic Progressive External Ophthalmoplegia With Myopathy

Cpeo With Myopathy

Total Ophthalmoplegia

Ophthalmoplegia-Plus Syndrome

Ophthalmoplegia, Progressive External, With Ragged-Red Fibers

Cpeo With Ragged-Red Fibers

Oculomotor Paralysis

Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O

Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna

Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia

Cpeo With Ragged Red Fibers

Ophthalmoplegia Plus Syndrome

Ophthalmoplegia, Progressive External, With Ragged Red Fibers

Kearns-Sayre Mitochondrial Cytopathy

Mitochondrial Myopathies

Partial Third-Nerve Palsy

Partial Third Nerve Palsy

Third Nerve Palsy With Pupil Sparing

Third Or Oculomotor Nerve Palsy, Partial

Oculomotor Nerve Diseases

Oculomotor Nerve Paralysis

Cranial Nerve Disease

Cranial Nerve Disorder

Disorder Of Cranial Nerve

Cranial Nerve Diseases

Abnormal Retinal Correspondence
Duane Retraction Syndrome

Stilling-Turk-Duane Syndrome

Duane'S Syndrome

Duane Syndrome

Isolated Duane Retraction Syndrome

Co-Contractive Retraction Syndrome

Duane Anomaly, Isolated

Ocular Retraction Syndrome

Drs

Durs

Duane-Radial Ray Syndrome

Okihiro Syndrome

DRRS

Dr Syndrome

Duane Anomaly With Radial Ray Abnormalities And Deafness

Acrorenoocular Syndrome

Acrorenocular Syndrome

Duane Anomaly With Radial Abnormalities And Deafness

Acro-Renal-Ocular Syndrome

Moebius Syndrome

Mobius Syndrome

Moebius Sequence

Oromandibular-Limb Hypogenesis Spectrum

Congenital Facial Diplegia

MBS

Moebius Congenital Oculofacial Paralysis

Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves

Congenital Facial Diplegia Syndrome

Congenital Oculofacial Paralysis

Congenital Ophthalmoplegia And Facial Paresis

Moebius Spectrum

Möbius Sequence

Möbius Syndrome

Mobius Ii Syndrome

Esotropia

Convergence In Manifest Squint

Crossed Eyes

Internal Strabismus

Convergent Concomitant Strabismus

Convergent Squint

Convergent Strabismus

Cross-Eye

Fourth Cranial Nerve Palsy

Fourth Nerve Palsy

Fourth Cranial Nerve Paresis

Fourth Or Trochlear Nerve Palsy

4th Nerve Palsy

Fourth Cranial Nerve Paralysis

Superior Oblique Palsy

Trochlear Nerve Palsy

Trochlear Nerve Paralysis

Trochlear Nerve Weakness

Isolated Trochlear Nerve Palsy

Atrophy Of Fourth Cranial Nerve

Atrophy Of Trochlear Nerve

Rippling Muscle Disease 2

Rippling Muscle Disease

Rmd

Lgmd1c

RMD2

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

Muscular Dystrophy, Limb-Girdle, Type 1c

Muscular Dystrophy, Limb-Girdle, Type 1c, Formerly

Lgmd1c, Formerly

Limb-Girdle Muscular Dystrophy Type 1c

Limb-Girdle Muscular Dystrophy Due To Caveolin-3 Deficiency

Muscular Dystrophy, Limb-Girdle, Type Ic

Rippling Muscle Syndrome

Limb-Girdle Muscular Dystrophy 1c

Dystrophy, Muscular, Limb-Girdle, Type 1c

Disease, Muscle, Rippling, Type 2

Rippling Muscle Disease 1

Optic Nerve Hypoplasia, Bilateral

Optic Nerve Hypoplasia

Bilateral Optic Nerve Hypoplasia

Optic Nerve Hypoplasia, Familial Bilateral

Familial Bilateral Optic Nerve Hypoplasia

Isolated Optic Nerve Hypoplasia/Aplasia

Optic Nerve Aplasia, Bilateral

Onh

BONH

Bilateral Optic Nerve Aplasia

Hypoplasia, Optic Nerve, Bilateral

Amblyopia

Lazy Eye

Keratitis, Hereditary

Keratitis

Autosomal Dominant Keratitis

Hereditary Keratitis

Dominantly Inherited Keratitis

Keratitis Hereditary

KERH

Refractive Error

Refractive Errors

Facial Nerve Disease

Facial Nerve Disorder

Facial Nerve Diseases

Neuropathy Of Facial Nerve

Disorders Of 7th Cranial Nerve

Disorders Of The Seventh Cranial Nerve

Distal Arthrogryposis

Arthrogryposis Multiplex Congenita

Arthrogryposis

Congenital Multiple Arthrogryposis

Congenital Arthromyodysplasia

Fibrous Ankylosis Of Multiple Joints

Guerin-Stern Syndrome

Guérin-Stern Syndrome

Myodystrophia Fetalis Deformans

Otto Syndrome

Rocher-Sheldon Syndrome

Rossi Syndrome

Amc

Multiple Congenital Arthrogryposis

Arthrogryposis Syndrome

Arthrogryposis, Distal

Distal Arthrogryposis Syndrome

Freeman-Sheldon Syndrome

Arthrogryposis, Distal, Type 2b

Congenital Multiplex Arthrogryposis

Amyoplasia Congenita

Congenital Amyoplasia

Amc - [Arthrogryposis Multiplex Congenita]

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Mus musculus KIF21A MGD MGI:109188
Canis familiaris KIF21A VGNC VGNC:42396
Bos taurus KIF21A VGNC VGNC:30595
Rattus norvegicus KIF21A RGD RGD:1305126
Macaca mulatta KIF21A VGNC VGNC:73861
Felis catus KIF21A VGNC VGNC:63112